Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine.

ABSTRACT:

Background

Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in FVIII gene with an incidence of 1 in 5,000 to 10,000 live born males. The Inv22 mutation is a major cause of the disease worldwide, accounting for up to 40%-50% of severe FVIII mutations. The aim of the present study was to screen Inv22 of the FVIII gene in Palestinian patients with severe HA and reveal its role as a predisposing factor for the development of inhibitors.

Materials and methods

A cohort of 77 HA individuals including 5 carrier females from 52 unrelated families registered at governmental hemophilia centers in the West Bank area of Palestine was investigated. The demographic data and the clinical history were retrieved from medical files. Molecular analysis of Inv22 mutati

SUBMITTER: Mahmoud Abu Arra C 

PROVIDER: S-EPMC7533029 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature