Disease Information for Hereditary Transferrin deficiency/Aferritinemia

ATRANSFERRINEMIA or HYPOTRANSFERRINEMIA, FAMILIAL

[ Gene map locus 3q21]

Hereitary deficienct tranferrin [synonym} atransferrinemia :

Anemia, hypochromic; Transferrin absent ; Congestive heart failure; Hemosiderosis, heart

Liver-Hemosiderosis; Autosomal recessive

Atransferrinemia is characterized by microcytic anemia and by iron loading. It can be treated effectively by plasma infusions; Heilmeyer et al. (1961) described total absence of transferrin in a 7-year-old girl whose presenting complaint was severe hypochromic anemia. Death occurred from heart failure. Severe hemosiderosis of the heart and liver was found at autopsy.; About half-normal levels of transferrin in both parents supported recessive inheritance (Goya et al., 1972). Goya et al. (1972) described a patient with only a trace of transferrin in the blood by immunologic methods, who responded well to parenteral administration of transferrin. Hayashi et al. (1993) restudied the family reported by Goya et al. (1972). The proband showed late onset of anemia and growth retardation (at age 7 years) and was found to have a healthy brother and a sister with very low transferrin levels; Supplementary therapy with apo-TF over a period of 5 years resulted in gradual disappearance of the anemia and improvement in growth. Severe deficiency of both TF and haptoglobin were demonstrated by immunoelectrophoretic studies. Recovery from anemia and the resumption of growth were dependent, however, only on his TF level;Hayashi et al. (1993) suggested that TF values less than 10 mg/dl may result in severe growth retardation and anemia, whereas persons with more than 20 mg/dl are apparently healthy. They also suggested that coexisting haptoglobin deficiency may alleviate hemosiderosis; Craven et al. (1987) studied hypotransferrinemia in the mouse. The tissue distribution of iron overload was similar to that in hemochromatosis; the hypotransferrinemic mice accumulated iron in the liver and pancreas. The authors suggested that hereditary hemochromatosis (235200) and congenital atransferrinemia in man are one and the same disease and that they are associated with subnormal concentration of plasma apo-transferrin. Inasmuch as the transferrin locus maps to chromosome 3 and the hemochromatosis locus to chromosome 6, the suggestion that the atransferrinemic mouse is a model of hemochromatosis cannot be extended to the level of the gene; Beutler et al. (2000) stated that atransferrinemia had been reported in only 8 patients in 6 families. They reported the first known case in the United States and identified mutations in the TF gene (190000.0006-190000.0007). The patient was a compound heterozygote.

----------------------[OMIM Website 2006

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