Hereditary atransferrinemia is a very rare disorder characterized by microcytic anemia and iron overload. It has been reported in only 10 patients in 8 families. The molecular basis of atransferrinemia has been determined in only 3 human cases. We now report a new patient with this rare disorder, who is the first known case in Turkey, the 11th patient reported in the published literature and only the 4th case of human atransferrinemia characterized on a molecular basis. DNA analysis of the serum transferrin gene in the patient revealed a previously undescribed mutation in exon 4, a G→A transition at cDNA 410(Cys137Tyr). A number of previously known polymorphisms and a previously undescribed mutation at IVS10(–23)C→T, presumably a polymorphism, were also documented.

Keywords:
Atransferrinemia, Iron overload, Microcytic anemia
1.
Heilmeyer L, Keller W, Vivell O, Betke K, Wöhler F, Keiderling W: Die kongenitale Atransferrinämie. Schweiz Med Wochenschr 1961;91:1203.
2.
Cáp J, Lehotská V, Mayerová A: Kongenitálna atransferinémia u 11-mesacného dietata. Cesk Pediatr 1968;23:1020–1025.
3.
Hromec A, Payer J Jr, Killinger Z, Rybar I, Rovensky J: Kongenitale Atransferrinämie. Dtsch Med Wochenschr 1994;119:663–666.
4.
Goya N, Miyazaki S, Kodate S, Ushio B: A family of congenital atransferrinemia. Blood 1972;40:239–245.
5.
Sakata T: A case of congenital atransferrinemia. Shonika Shinryo 1969;32:1523.
6.
Loperena L, Dorantes S, Medrano E, Berron R, Vega L, Cuaron A, Rodriguez C, Marquez JL: Atransferrinemia hereditaria. Bol Med Hosp Infant Mex 1974;31:519–535.
7.
Dorantes-Mesa S, Marquez JL, Valencia-Mayoral P: Iron overload in hereditary atransferrinemia. Bol Med Hosp Infant Mex 1986;43:99–101.
8.
Walbaum R: Déficit congénital en transferrine. Lille Med 1971;16:1122–1124.
9.
Hamill RL, Woods JC, Cook BA: Congenital atransferrinemia: a case report and review of the literature. Am J Clin Pathol 1991;96:215–218.
10.
Goldwurm S, Casati C, Venturi N, Strada S, Santambrogio P, Indraccolo S, Arosio P, Cazzola M, Piperno A, Masera G, Biondi A: Biochemical and genetic defects underlying human congenital hypotransferrinemia. Hematol J 2000;1:390–398.
11.
Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF: Molecular characterization of a case of atransferrinemia. Blood 2000;96:4071–4074.
12.
Asada-Senju M, Maeda T, Sakata T, Hayashi A, Suzuki T: Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia. J Hum Genet 2002;47:355–359.
13.
Knisely AS, Gelbart T, Beutler E: Molecular characterization of a third case of human atransferrinemia. Blood 2004;104:2607.
14.
Fairbanks VF, Brandhagen DJ: Disorders of iron storage and transport; in Beutler E, Lichtman MA, Coller BS, Kipps TJ, Seligsohn U (eds): Williams Hematology, ed 6. New York, McGraw-Hill, 2001, pp 489–502.
15.
Andrews NC, Bridges KR: Disorders of iron metabolism and sideroblastic anemia; in Nathan DG, Orkin SH (eds): Nathan and Oski’s Hematology of Infancy and Childhood, ed 5. Philadelphia, WB Saunders, 1998, pp 423–461.
© 2007 S. Karger AG, Basel
2007
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