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.
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.
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.
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.
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 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.
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.
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.
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.
Comprehensive multimedia information for clinicians, including current research, management guidelines and toolkits, and patient education resources.
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.