Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia.
Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of transferrin, resulting in hypochromic, microcytic anemia and hemosiderosis. The authors describe a 10-year-old Iranian girl with hypochromic microcytic anemia. The age presentation of anemia was 3 months. Further evaluations indicate severe hypochromic microcytic anemia with decreased serum levels of iron, TIBC, and increased serum level of ferritin in this patient. The serum level of transferrin was decreased. The diagnosis of atransferrinemia was confirmed. Although atransferrinemia is a rare condition, it should be considered in the cases with hypochromic microcytic anemia, decreased serum levels of iron, TIBC, and increased serum level of ferritin.
Shamsian
Bibi Shahin
BS
Department of Pediatric Hematology-Oncology, Mofid Children's Hospital, Shahid Beheshti Medical University, Tehran, Iran. Shamsianb@yahoo.com
Rezaei
Nima
N
Arzanian
Mohammad Taghi
MT
Alavi
Samin
S
Khojasteh
Omid
O
Eghbali
Aziz
A
D000747:Anemia, Hypochromic / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism* / Q000473:pathology; D001803:Blood Transfusion; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D000077543:Deferiprone; D005260:Female; D005293:Ferritins / Q000097:blood; D005492:Folic Acid / Q000008:administration & dosage / Q000627:therapeutic use; D005500:Follow-Up Studies; D006486:Hemosiderosis / Q000175:diagnosis / Q000378:metabolism; D006801:Humans; D007501:Iron / Q000097:blood; D007502:Iron Chelating Agents / Q000008:administration & dosage / Q000627:therapeutic use; D011728:Pyridones / Q000008:administration & dosage / Q000627:therapeutic use; D014168:Transferrin / Q000172:deficiency*; D014803:Vitamin B Complex / Q000008:administration & dosage / Q000627:therapeutic use
D007502:Iron Chelating Agents; D011728:Pyridones; D014168:Transferrin; D014803:Vitamin B Complex; D000077543:Deferiprone; D005293:Ferritins; D005492:Folic Acid; D007501:Iron