Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
نویسندگان
چکیده
منابع مشابه
Three Novel Mutations in Iranian Patients with Tay-Sachs Disease
Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...
متن کاملdetection of six novel mutations in wasp gene in fifteen iranian wiskott-aldrich patients.
wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia (xlt) that presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...
متن کاملDetection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.
Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich...
متن کاملProfile of Iranian GJB2 Mutations in Young Population with Novel Mutation
Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...
متن کاملDetection of Factor VIII Inhibitors in Hemophilia A Patients
Background: Factor VIII administration to hemophilia A patients results in an immune response (inhibitor formation) which significantly complicates the therapy. The present study was performed to determine the prevalence of inhibitor development in hemophilia A patients receiving recombinant factor VIII therapy. Materials and Methods: This was an observational descriptive study. Clotting fac...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2020
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.3294