Blood Podcast Review Series on Secondary Leukemia
Jul 2, 2020
Rachel Grace, a pediatric hematologist from Harvard, and Achille Yolascon, a genetics professor from Naples, dive into the latest advancements in hematology. They discuss breakthroughs in managing pyruvate kinase deficiency and emerging gene therapy trials. The conversation highlights the significance of international registries in improving patient care and the complexities of diagnosing congenital dyserythropoietic anemias. Their insights on inherited anemias and the role of accurate genetic testing pave the way for innovative treatments.
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G6PD Deficiency and Malaria
- G6PD deficiency is a widespread inherited disorder affecting about 500 million people worldwide.
- It is common in malaria-endemic areas since the heterozygous state provides protection against malaria.
Advances in PK Deficiency Treatment
- Recent clinical developments include targeted treatments for pyruvate kinase deficiency such as PK activators.
- An international registry has improved understanding of disease variability and complications.
Iron Overload Mechanism in CDA Type 2
- Excessive iron overload in congenital dyserythropoietic anemia type 2 is caused by erythroferron suppressing hepcidin.
- This leads to increased iron absorption and release from macrophages.