Congenital atransferrinemia: a case report

Abstract

Objective Congenital atransferrinemia (CAT) is an extremely rarely, recessively inherited disorder. To date, only eight cases have been reported in the published literatures of the world, and there is no report in China. The authors diagnosed a difficult and complicated case suffering from severe anemia for 3 years. Methods A thirteen-year-old boy was transferred to the Pediatric Department, Ruijin Hospital for recurrent anemia with significant hepatosplenomegaly three years. The child had required transfusion of whole blood and iron many times, but there was no benefit to the anemia. The child denied a family history of anemia, and his parents are normal. Diagnosis was confirmed according to the symptoms, signs, special laboratory examinations (liver biopsy, bone marrow biopsy, serum TRF, etc.) and the previously published papers of other authors. Results The patient manifested as severe anemia, hepatomegaly and splenectasis. The beta-globulin fraction was 5% (normal value: 7%~13%) on serum protein electrophoresis, and assays for TRF showed 0.0147g/L (normal value: 2.52~4.29g/L). The liver biopsy revealed the significant deposition of hemosiderin within the hepatocytes and kupffer cells. The parent of the boy showed a low level of TRF. His father′s TRF was 1.29g/L, and his mother′s TRF was 1.4 g/L. CAT is an autosomal recessive disease. Conclusion The diagnosis of congenital atransferrinemia was established, which remind that doctors must pay a great attention to this rare disease. Key words: Anemia; Transferrin; Hemosiderosis