Biochemical and genetic defects underlying human congenital hypotransferrinemia

The Hematology Journal : the Official Journal of the European Haematology Association
S GoldwurmA Biondi

Abstract

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

Citations

Dec 3, 2008·Blood·Paula G FraenkelLeonard I Zon
Jul 16, 2010·Advances in Hematology·Huihui Li, Yelena Z Ginzburg
Jan 1, 2009·Mediterranean Journal of Hematology and Infectious Diseases·Raffaella MarianiAlberto Piperno
Mar 19, 2014·Frontiers in Pharmacology·Lu ZhaoFudi Wang
Jan 27, 2012·The New England Journal of Medicine·Robert E Fleming, Prem Ponka
May 20, 2021·Advances in Nutrition·Wanhui KangKimberly O O'Brien

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