Diamond-Blackfan Anemia (DBA)

Diamond-Blackfan Anemia (DBA)

Key Takeaways Diamond-Blackfan Anemia or DBA is a rare, congenital blood disorder where the bone marrow fails to produce red blood cells. It is also known as congenital hypoplastic anemia. Causes ▾: The core cause is a defect in ribosome biogenesis, primarily...
Factor V Leiden Thrombophilia

Factor V Leiden Thrombophilia

Key Takeaways Factor V Leiden thrombophilia is a genetic condition caused by a mutation in the F5 gene that results in a defective Factor V protein, making it resistant to inactivation by activated protein C (APC). Pathophysiology ▾: Because the mutated Factor...
Methemoglobinemia

Methemoglobinemia

Key Takeaways Methemoglobinemia is a blood disorder where the iron in hemoglobin is oxidized from its normal ferrous state (Fe2+) to the ferric state (Fe3+). This abnormal hemoglobin, called methemoglobin (MetHb), can’t carry oxygen. Pathophysiology ▾: It...
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