Abstract
30Nov 2016 TWO NOVEL MUTATIONS IN SIX EXONS OF FACTOR VIII GENE IN SUDANESE PATIENTS WITH HEMOPHILIA A. Wed elbahar H.Aballah , Maria M. Satti , Mansour M. Mansoor. College of medical laboratory, Managil University of Science and Technology, Gezira , Sudan. College of Medicine, Khartoum University, Khartoum, Sudan College of medical laboratory, Sudan University of Science and Technology.
Highlights
The aim of the study was to screen the factor VIII gene mutation among Sudanese patients with hemophilia A. This analytical cross sectional study conducted in Khartoum teaching hospital in patients with hemophilia A who attended to hemophilia center, 10 patients with hemophilia A were selected, 5 ml of blood samples were taken in K2 EDTA for DNA extraction for the molecular studies and 5ml tri sodium citrate for APTT, PT, factor VIII assay and factor VIII inhibitor
Inherited disorders of blood coagulation are due to the lack of synthesis or to the synthesis of a dysfunctional molecule of one and, in rare instances, more than one coagulation factors
Factor VIII and factor IX deficiencies are inherited as a sex-linked trait
Summary
TWO NOVEL MUTATIONS IN SIX EXONS OF FACTOR VIII GENE IN SUDANESE PATIENTS WITH HEMOPHILIA A.
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