This educational resource for patients with von Willebrand disease (VWD) is available as an online PDF from the National Hemophilia Foundation. It provides general information about VWD and its types/subtypes; a 9-item VWD "essentials" checklist, with explanations; a 5-item checklist of information that patients should be prepared to share with their hematologists or with hemophilia treatment center staff; key symptom and management pointers, both in general and specific to male vs female patients; and several links to additional sources of information and support.
Newly updated for 2022 is this excellent patient-education brochure on mild hemophilia, available as an online PDF from the Canadian Hemophilia Society. Written by a team of advanced practitioners from centers across Canada, it provides a checklist on mild hemophilia, general information about the condition, tips on how to recognize bleeds, information about treatment options and inhibitor development, discussion focused on mild hemophilia in women and girls, healthy lifestyle advice for people with hemophilia, and a list of additional references and resources.
This review in the British Journal of Haematology focuses on neurologic factors that may impact disease severity and overall function in children and adults with sickle cell disease (SCD). The authors describe associations between neurocognition, demographic factors, and social determinants of health in people with SCD. "Integrating neuropsychology into multidisciplinary care for individuals with SCD," they assert, "can assist with identification and management of neurocognitive concerns, intervention development, individualized care plan development, and continued multidisciplinary research."
As the authors of this Blood Advances article note, the Globin Regional Data and Discovery (GRNDaD) registry, developed by sickle cell disease (SCD) healthcare providers from several US sites, will serve as a robust data collection tool for the Health Resources and Services Administration Sickle Cell Treatment Demonstration Program and the newly established National Alliance for Sickle Cell Centers. An important goal of GRNDaD, they explain, "is to identify genetic markers that will help predict outcomes and lead to a better understanding of the natural history of SCD in the modern era of novel therapies," to advance precision medicine in this setting.
This website, developed with support from Alexion Pharmaceuticals, Inc, features an infogram highlighting the typical signs, symptoms, and disease burden in patients with paroxysmal nocturnal hemoglobinuria.
This review, published in Trends in Pharmacological Sciences, describes preclinical and clinical studies of agents in the compstatin family and offers expert discussion of potential future applications of this drug class in complement diseases. In 2021, the authors note, pegcetacoplan (Empaveli/Aspaveli), a PEGylated, second-generation compstatin derivative, was approved for the treatment of paroxysmal nocturnal hemoglobinuria and is now being evaluated for possible additional indications.
In this recent literature review published in Expert Opinion on Emerging Drugs, European investigators used Medline and ClinicalTrials.gov databases to evaluate new drugs now in phase 2 and 3 trials for adults with paroxysmal nocturnal hemoglobinuria (PNH). The review discusses novel terminal complement inhibitors (targeting C5) and proximal complement inhibitors (interfering with C3 and upstream factors B and D) under investigation for the management of PNH. In their expert opinion, the authors write: "Ravulizumab is the first next-generation C5 inhibitor, approved by FDA and EMA, which reproduced the excellent results achieved with eculizumab, trying to improve the convenience of patients. However, unresolved issues remain, such as C3-mediated extravascular hemolysis, on which novel proximal complement inhibitors are showing their efficacy. Pegcetacoplan is the first C3-inihibitor approved by FDA. Long-term safety data for novel complement inhibitors are needed."
The authors of this February review in EBioMedicine note that treatment for immune thrombocytopenia (ITP) is shifting away from immune suppression and toward use of newer therapeutic agents such as thrombopoietin receptor agonists, which "have transformed ITP care…have high efficacy, are well tolerated, and improve patients' quality of life." The authors outline newer targeted therapies in ITP, including inhibitors of the neonatal Fc receptor inhibitors, Bruton tyrosine kinase, and the complement pathway. Mechanisms underlying ITP and new approaches to ITP care are discussed.
In this review in Open Access Emergency Medicine, emergency department (ED) healthcare providers from Miami, Florida, discuss current literature and guidelines relevant to the care of both pediatric and adult patients with immune thrombocytopenia who present to the ED. They highlight the epidemiology, clinical presentation, diagnosis (including tests to avoid or defer in the ED), and treatment of this blood disorder; and briefly outline management of ITP in pregnant patients and patients with COVID-19.
HemAware is an online magazine from the National Hemophilia Foundation that focuses on bleeding disorders, with separate links to information about specific disorders (hemophilia A and B, von Willebrand disease, hepatitis C, HIV, and several rare blood disorders) and health considerations for women with bleeding disorders. Research and treatment advances are highlighted; and supportive care tips on pain management, fitness, and nutrition are provided.
Explore 11 full-length video presentations from the Canadian Hemophilia Society's Coderouge 2021 conference, held virtually in September and promoted by the CHS as "the third Canadian conference on bleeding disorders in women." The sessions on hemophilia and von Willebrand disease kick off with a presentation by hematologist Leonard A. Valentino, MD, President and CEO of the National Hemophilia Foundation and the founder and former Director of Rush University's Hemophilia and Thrombocytopenia Center, in Chicago.
Rethink Sickle Cell Disease, a patient-information website supported by Novartis, Inc, offers a whiteboard video and several slideshows (referencing current research) explaining how vaso-occlusion (VO) and vaso-occlusive crises (VOC) impact patients with sickle cell disease.
In 3 short videos offered on the SCD Silent Damage website, Andrew Campbell, MD, Director of the Children's National Comprehensive Sickle Cell Disease Program, reviews the prevalence, symptoms, and life impacts of sickle cell disease (SCD); the molecular and cellular processes that underlie sickling; and the role of anemia and hemolysis in SCD. A fourth video uses computer animation to illustrate how hemoglobin S polymerization initiates the pathologic changes and anemia that characterize SCD.
This up-to-date resource from Everyday Health is helpful for patients with newly diagnosed paroxysmal nocturnal hemoglobinuria (PNH). Besides highlighting PNH causes and risk factors, symptoms and diagnosis, and current treatment options, there are tips for traveling; managing emotional aspects of living with PNH; and finding PNH specialists, support networks, and other resources.
Produced by the Nurses Group of the European Society for Blood and Marrow Transplantation (EBMT NG), this PDF brochure on paroxysmal nocturnal hemoglobinuria (PNH) was published in 2015 (with financial support from Alexion Pharmaceuticals). While discussion of treatment options may be dated, there is still useful, detailed, and well-organized information about PNH signs, symptoms, causes, diagnosis, and management, from a nursing perspective.
In this review article, published in Blood in late November 2021, researchers used 4 large data sources to ultimately evaluate the impact of SARS-CoV-2 vaccination in 109 patients with pre-existing immune thrombocytopenia (ITP). One key finding was that splenectomy and past use of 5 or more therapies were predictive of higher risk of worsening thrombocytopenia following receipt of the SARS-CoV-2 vaccine in patients with ITP. While concluding that vaccination against COVID-19 is "generally safe" in the setting of ITP, they advised that "thrombocytopenia exacerbation may occur and requires monitoring."
In mid March 2021, Sobi, a North American affiliate of the international biopharmaceutical company Swedish Orphan Biovitrum AB, announced it had partnered with the Platelet Disorder Support Association, a leading immune thrombocytopenia (ITP) advocacy organization, to launch the mobile app florio ITP for patients living with ITP. The app, developed with input from ITP patients and healthcare professionals, enables people with ITP to organize, track, and record their health and treatment information. iOS (Apple) and Android mobile phone users can download florio ITP free of charge.
In this short video from the American Society of Hematology (ASH), Veronica H. Flood, MD, provides a clinical snapshot of von Willebrand Disease (VWD) and the goals of the 2021 VWD clinical practice guidelines developed by ASH together with the International Society of Thrombosis and Haemostasis, Inc., the National Hemophilia Foundation, and the World Federation of Hemophilia. Dr. Flood is Clinical Co-chair of the panel that developed these guidelines.
The Centers for Disease Control and Prevention's Division of Blood Disorders funds Community Counts, a public health monitoring program that partners with the American Thrombosis and Hemostasis Network and the US Hemophilia Treatment Center Network. The purpose of Community Counts is to gather and share information about morbidity and mortality related to patients with hemophilia (and von Willebrand disease) who receive care in federally funded HTCs (designated Hemophilia Treatment Centers) in the US. A printable fact sheet for healthcare providers describes Community Counts, the information it collects, and eligibility for participation in the program.
The US Department of Health and Human Services' Office of Minority Health website offers patient-friendly information about sickle cell disease (SCD), along with current guidelines, research articles, webinars, and recent initiatives related to the management of SCD.
In this short video posted by Healio and created by Marley V. Ghizzone of HemOnctoday, Matthew M. Heeney, MD, highlights interesting findings and trends in sickle cell disease research presented at the 63rd Americal Society of Hematology Annual Meeting and Exposition. Dr. Heeney is Associate Chief of Hematology and Director of the Sickle Cell Program at Boston Children's Hospital; and Associate Professor, Harvard Medical School.
The Genetics section of MedlinePlus offers patient-friendly information about characteristic symptoms of paroxysmal nocturnal hemoglobinuria (PNH) and its causes, including detailed information about how mutation of the PIGA gene causes PNH. Links to genetic testing information, PNH patient support and advocacy resources, and current clinical trials are provided.
In a retrospective, longitudinal cohort study of 151 patients with paroxysmal nocturnal hemoglobinuria (PNH), investigators evaluated the real-world economic burden and treatment patterns of transfusion-dependent (n=55) vs transfusion-free (n=96) users of the C5 inhibitor eculizumab. After analyzing nationally representative, administrative claims data from a US population, they concluded that "[t]he economic burden of patients with PNH treated with eculizumab is greater among those dependent on blood transfusions," adding that "blood transfusion dependence may serve as an important indicator of uncontrolled disease … among patients with PNH."
On its website, the American Society of Hematology (ASH) offers answers to FAQs regarding the use of anticoagulation therapy in patients with COVID-19, based on guidelines developed by a multidisciplinary, international expert panel convened by ASH. These guidelines were published in Blood Advances on November 2, 2021; they will be updated by ASH, in collaboration with the guideline panel, as new data on which to make evidence-based recommendations become available.
This 2021 resource for adult patients with immune thrombocytopenia (ITP), is available as a PDF from the Platelet Disorder Support Association. It provides concise background information about ITP, answers may common questions of concern, and offers helpful resources. (Its development was supported by an educational donation from argenx.)
This document, offered by the National Hemophilia Foundation (NHF), provides updated recommendations (as of March 2021) from MASAC (NHF's Medical and Scientific Advisory Council) for treating bleeding in individuals with VWD. The recommendations are adapted from the American Society of Hematology, International Society on Thrombosis and Haemostasis, National Hemophilia Foundation, and World Federation of Hemophilia 2021 VWD guidelines.
This document, offered by the National Hemophilia Foundation (NHF), provides updated recommendations (as of March 2021) from MASAC (NHF's Medical and Scientific Advisory Council) for the diagnosis and management of women with bleeding disorders during pregnancy, labor and delivery, and in the postpartum period. Information is also provided regarding genetic counseling for adolescent females and women who may be carriers of hemophilia A or B. The goal is to minimize the risk of bleeding-related complications and facilitate early diagnosis of affected infants, following a multidisciplinary approach.
In this 1-hour slide-based webinar, offered by the National Heart, Lung and Blood Institute (NHLBI) through the US Department of Health and Human Services Office of Minority Health, researchers review key findings from selected NHLBI- and National Cancer Institute–funded bone-marrow transplant trials, including those conducted by the Blood and Marrow Transplant Clinical Trials Network. The last presentation is followed by a brief Q&A session.
In their engaging review, researchers from the hematology/oncology division at the Children's National Medical Center, Washington, DC, and the Sickle Cell Branch of the National Heart, Lung and Blood Institute comment that sickle cell disease (SCD) "epitomizes the bidirectional translational research common to many other diseases … starting with a remarkable astute observation of the abnormally shaped red blood cells that motivated decades of bench research that have now translated into new drugs and genetic therapies." Similarly, they write, development of hydroxyurea was initiated by a pediatrician's clinical observation, and research into its molecular mechanism of action has led to development of new fetal hemoglobin (HbF) reactivating agents. Research into mechanisms underlying the transition from HbF to adult Hb is bearing fruit also, with the development of promising genetic therapies. The authors highlight key discoveries that exemplify ways that bidirectional bench-to-bedside research in SCD has contributed to new therapeutic options.
The MSK Kids website of Memorial Sloan Kettering Cancer Center offers reader-friendly clinical snapshots on Fanconi anemia, CAMT (congenital amegakaryocytic thrombocytopenia), DBA (Diamond-Blackfan anemia), dyskeratosis congenita, GATA2 deficiency, Shwachman Diamond syndrome, and TAR (thrombocytopenia absent radii) syndrome.
This 3.5-minute animated video (produced by Springer Nature with support from Alexion Pharmaceuticals, Inc.) provides an overview of the etiology and symptoms of paroxysmal nocturnal hemoglobinuria (PNH), and highlights management of PNH with C5 inhibitors.
As the authors of this October 2021 review point out, these rare anemias, often caused by autoimmune destruction of red cells, can be characterized by both intravascular and extravascular hemolysis, with IgG mediating warm antibody–induced hemolysis and IgM mediating cold antibody–induced hemolysis. Immunosuppression and other treatments for autoimmune hemolytic anemias are discussed.
This recent literature review by researchers from Montefiore Medical Center/Albert Einstein College of Medicine in New York City notes that immune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA) are the most common hematologic autoimmune disorders seen in patients with SARS-CoV-2 infection, and that vaccine-induced thrombocytopenia is a unique autoimmune hematologic cytopenia associated with vaccination against SARS-CoV-2. The authors highlight current literature on the association between SARS-CoV-2 infection and vaccination with autoimmune cytopenias, as well as the clinical course of autoimmune cytopenias in patients with COVID-19.
Several new etiological factors for development of acquired hemophilia A and acquired von Willebrand syndrome have been identified in recent years. For hemophilia A these include SARS-CoV2 infection and treatment with immune checkpoint inhibitors or DPP-4 inhibitors. Acquired von Willebrand syndrome has be linked to use of left ventricular assist devices. The author reviews current data on the etiology, diagnosis, and treatment of these 2 acquired bleeding disorders.
This review, last updated on October 13, 2021, discusses perioperative management and treatment of bleeding for patients with hemophilia A and B, based on the World Federation of Hemophilia Guideline updated in 2020.
This 1-hour slide-based webinar, offered by the National Heart, Lung and Blood Institute (NHLBI) through the US Department of Health and Human Services Office of Minority Health, provides an overview of genetic therapies for sickle cell disease (SCD). Activities of the Cure Sickle Cell Initiative, an NHLBI-led collaborative research effort to accelerate development of potentially curative genetic therapies for SCD, are highlighted.
This review describes approaches to management of adults with SCD as well as the transition to adult care, highlighting older, newer, and pipeline agents. Management of a variety of complications in SCD—including CNS, musculoskeletal, cardiovascular, splenic, gastrointestinal, and genitourinary effects; aplastic crisis; and COVID-19 infection—is discussed.
In this whiteboard-style, 4-minute video, a clinical hematologist reviews the pathophysiology, clinical symptoms, laboratory testing, diagnosis, and management relevant to paroxysmal nocturnal hemoglobinuria.
This 3-minute computer-animated video (produced with support from Agios Pharmaceuticals, Inc.) provides a useful overview of the mechanisms by which pyruvate kinase deficiency develops, along with the clinical impact of this disorder and possible treatment.
In this case-based review, the authors describe the diagnosis and management of a 47-year-old male patient in generally good oral and periodontal health who presented with a nonbleeding bluish lesion on the back of his tongue, who 1 day later developed ecchymotic-type lesions on the mucous membranes of his cheeks and upper lip; a bleeding lesion at the apex of the tongue; gingivorrhagia; and petechiae on his back, scalp, lower limbs, and feet. Clinical deterioration was rapid and required immediate hospitalization. He was diagnosed with idiopathic thrombocytopenic purpura (ITP) following oral, dermatologic, and hematologic evaluations and recovered several days after treatment with hydrocortisone.
This YouTube state-of-the science video from August 25, 2020, from the Foundation for Women & Girls With Blood Disorders, was presented by Terry Gernsheimer, MD, Professor of Medicine and Hematology at the University of Washington Seattle Cancer Care Alliance. It was moderated by Gowthami M. Arepally, MD, a professor of medicine in the division of hematology at Duke University Medical Center. Evidence-based recommendations and guidelines covering the management of immune thrombocytopenia (ITP), updated by American Society of Hematology (ASH) in 2019, are reviewed in the context of concerns relevant to female patents with ITP, including reproductive health and pregnancy.
The National Hemophilia Foundation’s Nursing Working Group provides several useful PowerPoint presentations on its website. “The Basics of Hemophilia” provides a good overview of the etiology and pathophysiology of this blood disorder, along with types of bleeds, treatment options and complications, nursing considerations, and the role of hemophilia treatment centers.
National Hemophilia Foundation (NHF) President and CEO Leonard Valentino, MD, discusses the role that von Willebrand Factor may play in severe cases of COVID-19, in this succinct post on the NHF website. Links to recent academic articles and media reports on this topic are provided.
The Kidney Cancer Association (KCA), an international nonprofit founded in 1990 by a group of patients and doctors in Chicago, provides grants, conducts annual research symposia, and engages in educational and patient advocacy programs. In partnership with the Sickle Cell Disease Association of America, the KCA has launched “Know and Tell,” a program that the KCA says aims “to raise awareness about sickle cell trait and its link to renal medullary carcinoma to promote early identification, proper care, and increasing positive outcomes for patients and families.”
On its website, the American College of Emergency Physicians provides information about EDSC3, its Emergency Department Sickle Cell Care Coalition, created with the help of multiple public, private, and professional partners to optimize the delivery and performance metrics of evidence-based emergency care for patients with SCD in the United States. EDSC3 also disseminates relevant research findings to local, regional, and national stakeholders; provides patient and provider education about appropriate management of SCD-related pain; and supports patient advocacy and community outreach in this area.
This concise, medically reviewed guide from Everyday Health offers useful travel tips for patients with PNH—including advice on airline travel, ways to make accommodations safer, how families can prepare for visits from loved ones with PNH, and strategies to help patients minimize unnecessary exposures to infection.
In January 2020, the National Organization for Rare Disorders (NORD) and the Foundation for Rare Blood Diseases released this PKD-focused Voice of the Patient report, summarizing perspectives of patients with PKD and their caregivers who participated in a September 2019 externally led patient-focused drug-development (EL-PFDD) meeting. The purpose of the EL-PFDD meeting was to gather information about patient experiences with PKD, quality of life (QoL) issues, aspects of living with PKD that are most problematic for patients, and what actions patients currently take to treat and cope with their disease.
An international multicenter team from Iran, the US, and Canada conducted a systematic review of the medical literature to evaluate cases of vaccine-induced immune thrombocytopenia (VITT) and cerebral venous sinus thrombosis (CVST) following vaccination against COVID-19. A total of 19 of 49 patients (39%) with CVST died from complications of CVST and VITT.
In a multicenter prospective cohort study published in the New England Journal of Medicine, a team of investigators evaluated patients with suspected vaccine-induced immune thromobocytopenia and thrombosis (VITT). Patients with a low platelet count and intracranial hemorrhage had the highest VITT-associated mortality, with 73% mortality among patients with intracranial hemorrhage and platelet counts < 30,000/mm3.
The authors of this January 2021 article evaluate specific obstacles to early diagnosis and treatment of VWD. They note that early diagnosis of mild cases and cases of qualitative von Willebrand factor defects may be especially difficult but emphasize that “bleeding history still represents the crucial key in order to induce an early diagnosis and consequent optimal treatment” and the use of bleeding assessment tools, or BATs, “helps to standardize bleeding history collection and to quantify bleeding frequency and severity.”
This site from Verywell Health, a partner of the Cleveland Clinic, highlights physical, hormonal, malignant, and pathological causes of vaginal bleeding, including von Willebrand disease (VWD). Information about VWD diagnosis and treatment is outlined.
The Thalassemia International Foundation (TIF) introduced its free THALIA app in February. It can be downloaded to Apple and Android devices and is available in English, French, and German, with more languages to be added in the near future. The app enables users to organize medical and blood transfusion appointments; receive medication alerts; score disease symptoms, as well as pain and mood levels; monitor progress and share graphs; and read news and educational material from TIF.
A team of clinicians from the Medical College of Wisconsin has developed an online registry to monitor outcomes of COVID-19 in pediatric and adult patients with sickle cell disease across the United States. The registry contains only de-identified data, in accordance with HIPAA standards, and the data entered by providers caring for these patients are stored on secure servers. Data will be shared directly on covidsicklecell.org, through social media (@SickleCellWI), and in scholarly publications.
Through their clinical medical knowledge base, eMedicine, Medscape offers current, comprehensive information about PNH, from its pathophysiology, etiology, and epidemiology; to typical presentations and differential diagnoses; to patient workup, treatment, and follow-up. There are also Practice Essentials, Questions & Answers, Media Gallery, and References sections.
In May 2021, the National Organization for Rare Disorders (NORD) and the Aplastic Anemia & MDS International Foundation (AAMDSIF) presented this 24-minute webinar. Participants from NORD and AAMDSIF provide background information about resources that their organizations offer to patients and healthcare professionals; review NORD’s IAMRARE® Registry Program and data gathering for patient registries for natural history studies; and explain Global PNH Registry data collection aims and processes for storage and use.
In this systematic review, investigators hypothesize that thrombopoietin receptor agonists (TPO-RAs) “influence platelet function, global and secondary hemostasis, and/or fibrinolysis.” After evaluating 12 observational studies comprising 305 patients, they report “[t]here were indications that TPO-RA treatment enhanced platelet function, with respect to platelet-monocyte aggregates, soluble P-selectin, GPVI [glycoprotein VI] expression, and adhesion under flow.”
This review from StatPearls (available on the National Center for Biotechnology Information online bookshelf), updated in late June, provides comprehensive information and clinical pearls related to the autoimmune condition known as Evans syndrome. As the authors explain, patients with Evans syndrome present with two or more cytopenias; these are commonly warm autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), with or without immune neutropenia.
This multicenter team of pediatric researchers provides a comprehensive overview of novel molecular approaches to hemophilia care, focusing on several gene therapies and non-replacement therapies. Proclaiming that “a new revolution in hemophilia treatment is now in full gear,” they summarize the available data on these approaches, their advantages and limitations, and the potential impact on hemophilia management. Excellent explanatory figures make this article reader-friendly.
Hemophilia News Today offers a welcoming space for hemophilia carriers and patients—as well as their families, caregivers, and healthcare providers—to share information and learn more about this rare blood disorder.
This up-to-date open-source document from StatPearls (available on the National Center for Biotechnology Information online bookshelf) is an excellent introduction to the etiology/epidemiology, diagnosis, and treatment of beta-thalassemia, also called Cooley anemia. Specific transfusion-related complications are highlighted.
Earlier in 2021, the Cure Sickle Cell Initiative (CureSCi) of the National Heart, Lung and Blood Institute (NHLBI) finalized the first set of set of core data elements, or CDEs, for investigations of genetic therapies for SCD. Its Sickle Cell Disease Genetic Studies Highlight Summary Document provides useful recommendations to investigators for evaluation of patients with SCD enrolled in clinical trials in this area, as well as for study domains including disease- and treatment-related events, assessments and examinations, treatment and intervention data, and outcomes and endpoints.
MedlinePlus Genetics, a part of the National Library of Medicine’s consumer resource MedlinePlus, offers patients solid information about the etiology of pyruvate kinase deficiency (and many other genetic disorders), plus vetted resources for genetic testing and appropriate clinical trials.
Patient Worthy, an online advocacy and information website for people with rare diseases, recently launched their Rare Classroom series. Featured in July is a reader-friendly post on PNH, with bulleted descriptions providing essential information about its etiology, causes, symptoms, and treatment, as well as links to relevant newsbriefs, research, and national organizations.
This mini-review highlights discussions from the sixth annual meeting on ITP organized by the Intercontinental Cooperative ITP Study Group and held in September 2019 in Locarno, Switzerland. At the 2019 meeting, the authors explain, “scientists and clinicians of pediatric and adult hematology, oncology, immunology, and genetics shared their ideas, experiences, and research findings to critically assess open questions and launch future joint projects” to investigate “out of the box” concepts associated with ITP.
The International ITP Alliance was formed in 2016 by support organizations around the world, to give patients with immune thrombocytopenia a greater voice and promote public awareness of this autoimmune bleeding disorder. This year’s celebration in late September marks its sixth annual global event. The website provides an ITP Awareness Toolkit to help people spread information about ITP on Facebook, Twitter, and other social media. It also offers links to ITP information and resources; patient support organizations, by country; and resources related to COVID-19.
The nonprofit Nemours Foundation in Jacksonville, Florida, was founded by Alfred I du Pont in 1936. Dedicated to improving children’s health, it operates Nemours Children's Clinics in Delaware, Florida, Pennsylvania and New Jersey. The Foundation’s KidsHealth website provides a TeensHealth page with basic information about the causes, diagnosis, and treatment of von Willebrand disease, as well as tips on symptom management and communication with medical professionals.
Founded in 1991, the Coalition for Hemophilia B offers access to a broad range of workshops, educational programs, and resources ranging from research news to QoL advice for patients with hemophilia B and their caregivers. The organization’s online Hemophilia B News is published quarterly.
The APHL website offers access to informational webinars on alpha and beta thalassemia; oral sessions on detecting and reporting alpha thalassemia in newborns; and presentations highlighting current best practices for hemoglobinopathy screening, confirmation, and follow-up. APHL’s Newborn Screening Hemoglobinopathies Workgroup is also available to answer emailed screening-related questions, with a 1-week turnaround.
This is an excellent resource for both patients and healthcare providers. Clinicians can access relevant webinars and grand rounds programs, as well as information about clinical trials and thalassemia-related medical research grants and fellowships. Patients and caregivers can read in-depth information about thalassemia and its management; find treatment centers; explore physician Q&A articles on specific aspects of this illness; and view patient stories. Educational brochures are available as downloadable PDFs.
This comprehensive 2018 booklet for patients also provides useful information for healthcare providers who are not specialists in the management of PKD. The publication was independently developed by S. Karger Publishers Limited, with the support of an educational grant from Agios.
The CDMRP, created in 1992, is a partnership between the public, the US Congress, and the military. This February 2021 pamphlet highlights current high-impact BMF clinical research, including a link to summary abstracts and publication citations for studies funded through the Bone Marrow Failure Research Program.
The FWGBD’s mission is to support education and awareness among women, adolescent girls, and their healthcare providers regarding female bleeding disorders, given the challenges that such disorders can pose during the menstrual cycle and at various stages of the female reproductive life cycle (eg, pregnancy, childbirth, menopause). The FWGBD’s website offers particularly comprehensive resources on ITP, including expert interviews, videos, webinars, Q&A, and COVID-19 resources for providers treating patients with ITP.
In this review, researchers from Dijon, France, highlight recent advances in the understanding of ITP pathogenesis that have broadened and deepened the opportunities for therapeutic intervention. Beyond describing multiple potentially promising pathways and targets now under investigation, they caution that “[T]ogether with this therapeutic progress, new questions have arisen, such as the place of each drug in the algorithm of ITP management, the safety of their long-term use and the possibility of synergistic combination. Moreover, the various response rates to all these therapies highlight the crucial need for biomarkers to tailor the treatment to patients and optimize their management.”
While the management of COVID-19 continues to evolve, these recommendations from the European Society for Blood and Marrow Transplantation provide useful guidance on stem cell transplant (HCT) in the context of COVID-19.
This continuing education course for healthcare professionals is divided into four modules, and covers the diagnosis of hemophilia, appropriate treatment options for bleeding episodes, and management of complications and their associated psychosocial issues.
This paper provides guidance on the care of girls and adolescents with bleeding disorders who have heavy menstrual bleeding. It discusses screening tools; laboratory evaluation; imaging recommendations; medical, hormonal, and nonhormonal management; use of NSAIDs; transfusion; intrauterine procedures and devices; management of ovarian cysts; and support of reproductive health.
This document provides guidance on hemoglobinopathy laboratory testing and follow-up technique, in support of early detection of hemoglobin disorders. It includes an overview of laboratory structure and discusses algorithms for testing, reporting, and follow-up from several programs in the US.
This resource contains comprehensive patient-education information and links to NIH-sponsored clinical trials. There is also a section for healthcare professionals, with research updates and tips (on hydroxyurea, pain management, healthy living) to share with patients.
Marrowforums was founded by volunteers for, and board members of, the nonprofit Aplastic Anemia & Myelodysplastic Syndromes International Foundation, as a forum for patients with BMF diseases such as AA, MDS, and PNH and their extended support system (family members, friends and caregivers, healthcare professionals). In addition to hosting discussion groups, the website provides links to medical information, clinical trials, and patient advocacy resources.
The authors of this study state that iWISh “focused on perceptions of 1,507 patients and 472 physicians from 13 countries regarding the diagnostic pathway, frequency and severity of signs and symptoms, and treatment use” related to ITP.
This January 2021 consensus statement was written by clinicians with an interest in coagulation disorders or ITP and was reviewed by members of the UK ITP forum. The ITP Support Association is a UK charity.
This resource for patients and healthcare providers provides a wealth of information, encompassing diagnosis and treatment, along with printable fact sheets and brochures; connections to treatment centers and clinical trials; descriptions of current research projects and access to published scientific research; professional webinars and guidelines for diagnosis, treatment, and management; and, especially for women with VWD, tips for pregnancy and childbirth.
The World Federation of Hemophilia (WFH) guidelines were last updated in 2012, as the 2nd edition of the guidelines. Learn more about important advances in several aspects of hemophilia management since then in the current 3rd edition of the WFH guidelines, published in August 2020.
These science-based guidelines for best-practice care were developed by a multicenter panel of healthcare professionals selected by NHLBI’s leadership. The guidelines highlight commonly encountered issues in SCD, such as routine health maintenance, detection and treatment of SCD acute and chronic complications and comorbidities, and indications for and monitoring of hydroxyurea and blood transfusion therapy.
Multimedia resources for patients, offering fact sheets, educational materials, webinars, and personal stories about thalassemia. For healthcare professionals, current virtual grand rounds and webinars on various aspects of thalassemia management.
The goal of 30-year-old Be the Match is to connect patients with donor matches for life-saving adult bone marrow or umbilical cord blood transplants. Be the Match is operated by the National Marrow Donor Program® (NMDP), a nonprofit organization that matches patients with donors, educates healthcare professionals, and conducts research through its Center for International Blood and Marrow Transplant Research®. In an April 2021 news release, the organization noted that since its inception, it has facilitated more than 105,000 transplants for patients with leukemia, lymphoma, sickle cell disease, and approximately 70 other diseases.
The NIDDK website offers user-friendly sections including Definition & Facts; Symptoms & Causes; Diagnosis; Treatment; Eating, Diet, & Nutrition; and Clinical Trials. Information about related conditions and diseases, as well as related research into hematologic diseases at NIDDK, is also provided.
The Platelet Disorder Support Association (PDSA) was patient-founded in 1998 for patients with immune thrombocytopenia (ITP) and other platelet disorders. Resources of interest to healthcare providers include a newsroom; the updated international consensus report on management of primary ITP (Provan et al, Nov. 2019); and more than a dozen patient education pamphlets covering a wide range of topics—including the role and function of platelets in ITP, the female lifecycle and ITP, FAQs and lifestyle tips related to ITP, and information about health insurance assistance programs for patients with ITP. The PDSA website also provides up-to-date information about the ITP Natural History Study Patient Registry; the COVID-19 and ITP Research Survey; and relevant medical meetings, including the “ITP Conference 2021,” a virtual event that will occur on July 31 and August 1, 2021.
The Castleman Disease Collaborative Network is a patient advocacy organization founded in 2012 to advance research and treatment. Patients can read patient education materials; donate tissue samples; and enter their medical data into the ACCLERATE patient registry, to inform clinical research (after data de-identification). Resources for clinicians include access to recent studies, treatment toolkits and guidelines, and information about CDCN-funded research. In AIM 2021 (“All-in Movement” 2021), the CDCN Scientific Advisory Board will crowdsource and prioritize questions and ideas from Castleman’s disease community to guide future clinical trials.
This brief but intriguing roundup in The Hematologist, a publication of the American Society of Hematology, highlights cutting-edge clinical trials of the past year focused on gene therapy for sickle cell disease.
The European School of Haematology, or ESH, held its first translational research e-conference on bone marrow failure disorders live online from November 13–15, 2020. Peruse the website for free access to e-posters, as well as detailed study summaries in the 142-page online scientific program book.
These evidence-based guidelines on management of ITP were developed by a multidisciplinary panel formed by ASH in 2015 to evaluate 2011 ITP guidelines and formulate recommendations based on available evidence and recommendations through May 2017. ASH will maintain currency of the guidelines by ongoing review and surveillance.
The NHLBI website provides comprehensive educational information for patients with bleeding disorders including hemophilia, von Willebrand disease, coagulation disorders, blood clotting disorders, and clotting factor deficiencies.
Updated for 2021, this GeneReviews® e-book provides comprehensive, up-to-date information about sickle cell disease (SKD) diagnosis, supportive care, and treatment options, as well as SKD-related genetic testing and counseling.
Because inherited bone marrow failure (IBMF) syndromes are associated with a high risk of cancer, researchers and clinicians at the National Cancer Institute have studied patients with IBMF for several decades, and have recently uncovered several new genetic causes of IBMF. The NCI Inherited Bone Marrow Failure Syndrome Cohort Study enrolls families with one or more members with an IBMF syndrome, and includes first-degree and other relatives as appropriate.
This review article summarizes current knowledge about this complex disease, highlights research into targeted treatment, and discusses how characteristics of AIHA may vary in older adults, depending on their immunological status.
The National Hemophilia Foundation website provides background information on hemophilia, von Willebrand disease and other factor deficiencies, and rare platelet disorders, as well as disease-specific best-practices treatment recommendations and management guidelines for healthcare professionals.
Comprehensive multimedia information for clinicians, including current research, management guidelines and toolkits, and patient education resources.
The authors of this StatPearls e-book focus on inherited bone marrow failure (BMF) disorders, with sections including but not limited to etiology and pathophysiology, evaluation and management, differential diagnoses, patient education, and clinical pearls related to several common BMF syndromes.
This review article explores putative mechanisms by which infection and inflammation can trigger and drive hemolysis in cold agglutinin disease, or CAD, and secondary cold agglutinin syndrome, or CAS, as well as recent advances in understanding the pathogenesis of these disorders. Novel targeted treatments such as complement-directed therapies are discussed.
The CDC funds a national network of hemophilia treatment centers, or HTCs. This searchable directory enables users to find HTCs and regional HTC coordinators. Mailing labels can be printed and Treatment Center Staff can be emailed directly from the site.
Learn more about European clinicians’ perspective on management of sickle cell disease and thalassemia during the COVID-19 pandemic, with recommendations from the European Hematology Association.
The website of this highly rated charitable organization provides education (patient guides, fact sheets, research summaries) and advocacy resources related to benign hematologic malignancies including aplastic anemia, paroxysmal nocturnal hemoglobinuria, and related bone marrow failure disorders.
In this multicenter review and consensus opinion, clinicians from the US and UK shed new light on the possible etiology of immune-mediated cytopenias, and offer management strategies for patients with inherited metabolic disorders who develop single or multilineage cytopenias following hematopoietic stem cell transplantation.
This case-based article, included in the 2019 American Society of Hematology (ASH) educational program, teaches clinicians when to suspect an acquired coagulopathy in the acute-care setting, describes current specialized treatments, and highlights other acquired conditions with similar presentations.