A patient presents with a microcytic hypochromic anemia, and further investigation reveals a defect in the gene encoding the divalent metal transporter 1 (DMT1). What is the most likely diagnosis?

A Sideroblastic anemia
B Thalassemia major
C Atypical hemolytic uremic syndrome
D Hereditary hypochromic microcytic anemia with defective DMT1 ✓

Explanation

DMT1 is a protein responsible for the transport of iron across the intestinal epithelium and into erythroid cells. A defect in the DMT1 gene can lead to a rare form of microcytic hypochromic anemia.

Source

New England Journal of Medicine
Hematology Hematology: Anemia Hematology: Anemia Hard MEDICAL Confidence: medium