Biochemical and genetic defects underlying human congenital hypotransferrinemia.

摘要: INTRODUCTION Human congenital hypotransferrinemia is a rare disorder characterized by the virtual absence of transferrin in serum. No information on causes disease known. MATERIALS AND METHODS Here we describe identification new case, its treatment and biochemical genetic defects underlying disorder. RESULTS At diagnosis patient had serum Tf levels equal to about 1% normal values. The with plasma infusions each month allowed good erythropoiesis prevention iron overload no need red blood cell transfusions or chelators. In order define basis disease, performed haplotype analysis gene region 26 individuals forming proband's family, demonstrated that defect located it inherited as recessive trait. Protein analyses indicate proband contains two forms: one 80 kD analogous one, smaller 50 kD, which may arise from specific degradation be product modified allele. CONCLUSION These data suggest presence alleles carrying cause distinct abnormalities. One allele low expression an apparently protein probably survival first years age. other produces different characteristics compared one.