title: Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia.
abstract: 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.
authors: Department of Pediatric Hematology-Oncology, Mofid Children's Hospital, Shahid Beheshti Medical University, Tehran, Iran. Shamsianb@yahoo.com
authors: Bibi Shahin
authors: BS
authors: Shamsian
authors: Nima
authors: N
authors: Rezaei
authors: Mohammad Taghi
authors: MT
authors: Arzanian
authors: Samin
authors: S
authors: Alavi
authors: Omid
authors: O
authors: Khojasteh
authors: Aziz
authors: A
authors: Eghbali
mesh_terms: 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
chemical_list: D007502:Iron Chelating Agents; D011728:Pyridones; D014168:Transferrin; D014803:Vitamin B Complex; D000077543:Deferiprone; D005293:Ferritins; D005492:Folic Acid; D007501:Iron