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: Bibi Shahin Shamsian, Nima Rezaei, Mohammad Taghi Arzanian, Samin Alavi, Omid Khojasteh, Aziz Eghbali
• Journal: Pediatric hematology and oncology (Pediatr Hematol Oncol) 2009 Jul-Aug Vol. 26 Issue 5 Pg. 356-62 ISSN: 1521-0669 [Electronic] England
• PMID: 19579082 (Publication Type: Case Reports, Journal Article)

Chemical References

• Iron Chelating Agents
• Pyridones
• Transferrin
• Vitamin B Complex
• Deferiprone
• Ferritins
• Folic Acid
• Iron

Topics

• Anemia, Hypochromic (diagnosis, drug therapy, metabolism, pathology)
• Blood Transfusion
• Bone Marrow (pathology)
• Child
• Deferiprone
• Female
• Ferritins (blood)
• Folic Acid (administration & dosage, therapeutic use)
• Follow-Up Studies
• Hemosiderosis (diagnosis, metabolism)
• Humans
• Iron (blood)
• Iron Chelating Agents (administration & dosage, therapeutic use)
• Pyridones (administration & dosage, therapeutic use)
• Transferrin (deficiency)
• Vitamin B Complex (administration & dosage, therapeutic use)