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, 41 (3), 273-6

A Novel Homozygous Missense ADAMTS13 Mutation Y658C in a Patient With Recurrent Thrombotic Thrombocytopenic Purpura

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  • PMID: 22075512

A Novel Homozygous Missense ADAMTS13 Mutation Y658C in a Patient With Recurrent Thrombotic Thrombocytopenic Purpura

Seon Ho Lee et al. Ann Clin Lab Sci.

Abstract

Thrombotic thrombocytopenic purpura (TTP) is a devastating systemic disorder that is characterized by microangiopathic hemolytic anemia, thrombocytopenia, neurological dysfunction, and renal failure. In the hereditary form of TTP, severe deficiency of ADAMTS13, a plasma metalloprotease that cleaves von Willebrand factor, is associated with the development of this disorder. A 34-year-old woman was diagnosed with TTP due to severely reduced ADAMTS13 activity; clinical manifestations resolved only by repeated total plasma exchanges or transfusion. Homozygous and heterozygous Y658C (c.1973A>G) alleles were detected in the patient and her child with severe and mild ADAMTS13 deficiencies, respectively. Herein, we report a novel missense mutation Y658C (c.1973A>G) on exon 17 of ADAMTS13 and discuss its clinical implications.

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