Chediak-Higashi Syndrome

Chediak-Higashi Syndrome

Key Takeaways Chediak-Higashi syndrome is a rare, autosomal recessive genetic disorder characterized by defects in lysosomal trafficking. Cause: A mutation in the LYST gene. Pathophysiology ▾: The LYST gene defect leads to the formation of abnormally large,...
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...
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