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Article

Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Jan 2000

Owaidah Tarek, Bakr Salwa, Al-Numair Nouf, AbaAlkhail Hala, Alzahrani Hazzaa, Saleh Mahasen, Khogeer Haitham, Tarawah Ahmed, Akkad Hadeel, Al-Allaf Faisal

Abstract excerpt

Establishing a national screening program for hemophilia patients is highly encouraged by the World Health Organization and the World Federation of Hemophilia. Hence, this study aimed to analyze the variant spectrum of F8 and F9 genes in Arab hemophilia patients. Molecular genetic and sequencing studies were performed on a cohort of 135 Saudi hemophilia patients. Out of all screened hemophilia patients (97...

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PMID: 37525882
DOI: 10.1177/10760296231182410
PMCID: PMC10395182

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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