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

Caesar Mahmoud Abu Arra Fekri Samarah Nael Sudqi Abu Hasan

Published in: Scientifica (2020)

Findings on Inv22 are in agreement with worldwide reports, being a major genetic mutation in severe HA. The S-PCR is a simple, rapid, and cost-effective method for the diagnosis of Inv22 in severe HA patients. Although the Inv22 mutation was associated with 36.6% of severe HA phenotype cases, it was not a major predisposing factor for inhibitor formation.

Keyphrases

end stage renal disease
early onset
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
emergency department
dna methylation
gene expression
magnetic resonance
genome wide
patient reported
drug induced
sensitive detection