Which of the following anemias is characterized by an autosomal dominant inheritance pattern and is caused by a mutation in the EPAS1 gene?

A Familial erythrocytosis ✓
B Hereditary spherocytosis
C Sickle cell anemia
D Thalassemia major

Explanation

Familial erythrocytosis, also known as Chuvash polycythemia, is an autosomal dominant disorder caused by a mutation in the EPAS1 gene, leading to increased red blood cell production and anemia.

Source

American Journal of Human Genetics
Hematology Hematology: Anemia Hematology: Anemia Hard MEDICAL Confidence: high