A patient with anemia is found to have a mutation in the gene encoding for the transcription factor GATA1. Which type of anemia is this patient most likely to have?

A Diamond-Blackfan anemia
B Congenital dyserythropoietic anemia
C X-linked sideroblastic anemia ✓
D Fanconi anemia

Explanation

GATA1 is a transcription factor essential for the development and function of erythrocytes. Mutations in the GATA1 gene are associated with X-linked sideroblastic anemia.

Source

Orphanet Journal of Rare Diseases
Hematology Hematology: Anemia Hematology: Anemia Hard MEDICAL Confidence: high