Variable Clinical Presentation of Congenital Thrombotic Thrombocytopenic Purpura in a Large Cohort of Patients Carrying a New Mutation in the CUB1 Domain of ADAMTS13 Gene

Oleg Pikovsky, Maram Arafat, Hilla Ovadia, Yoav Sharoni, Kayed Al Athamen, Bibi Kanengisser-Pines, Anat Keren-Politansky, Itai Levi, Ruti Parvari, Anat Rabinovich

Research output: Contribution to conferencePoster

Abstract

Congenital TTP (Thrombotic Thrombocytopenic Purpura) is a rare life-threatening inherited disorder, resulted from mutations in ADAMTS13 gene. Such mutations interfere with ADAMTS13 enzyme production or function, subsequently resulting in microangiopathic hemolytic anemia (MAHA) and microvascular thrombosis. The investigation of congenital TTP is challenging because of its rarity with an estimated prevalence ranging from 0.4 to 16.7 cases per million and about 150 identified mutations. Recently, we identified a cohort of patients with congenital TTP from three consanguineous families of Arab Bedouin origin in southern Israel. All patients have the same, previously unidentified mutation c.3772 delA in the ADAMTS13 gene. In this single center prospective cohort study, we present patients' genetic, clinical and laboratory data and results of the abnormal ADAMTS13 protein Western blot analysis.
Original languageEnglish
Pages1139
Number of pages1
DOIs
StatePublished - 29 Nov 2018
Event60th ASH Annual Meeting and Exposition - San Diego, United States
Duration: 1 Dec 20184 Dec 2018

Conference

Conference60th ASH Annual Meeting and Exposition
Country/TerritoryUnited States
CitySan Diego
Period1/12/184/12/18

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