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.