Blood Podcast Review Series on Inherited Anemias
Sep 10, 2020
Rachel Grace, a pediatric hematologist at the Dana-Farber Boston Children’s Cancer and Blood Disorder Center, discusses advancements in understanding and treating pyruvate kinase deficiency. Achille Iolascon, a professor of medical genetics, shares insights on congenital dyserythropoietic anemias. They delve into breakthroughs in pharmacological treatments, including gene therapy, and the complexities of diagnosing inherited anemias. The conversation highlights the importance of genetic research and its potential to improve patient care and treatment outcomes.
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Key Inherited Anemias Reviewed
- The review series covers key inherited anemias like G6PD deficiency, pyruvate kinase deficiency, red cell membrane disorders, Diamond Blackfan anemia, and congenital dyserythropoietic anemias.
- G6PD deficiency is the most common inherited disorder globally, linked to malaria endemic areas due to protective advantage.
Emerging Treatments for PK Deficiency
- New targeted treatments, such as pyruvate kinase activators, are emerging for pyruvate kinase deficiency, a rare inherited anemia.
- Clinical trials show promising hemoglobin improvements, offering hope for managing this disease more effectively.
New Treatment for CDA Anticipated
- Congenital dyserythropoietic anemias (CDA) are heterogeneous, with type 1 and 2 as main groups.
- Luspatercept, a drug effective in thalassemia, is about to start trials for CDA, aiming for new treatment options.