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Article

Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.

Molecular genetics & genomic medicine - 1 Feb 2021

Mosaad Rehab M, Amr Khalda S, Rabie Eman A, Mostafa Naglaa O, Habib Sonia A, El-Kamah Ghada Y

Abstract excerpt

BACKGROUND: Hemophilia A (HA) is an inherited X-linked recessive coagulation disorder caused by factor VIII (F8) deficiency. F8 rearrangements involving intron 22 (int22) and intron 1 (int1) account for almost half of severe HA phenotype also a hotspot exon 14 provides numerous mutational patterns. This study aims to identify F8 gene mutations among Egyptian HA patients. METHODS: DNA samples from 60 HA patients...

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Identifiers

PMID: 33342086
DOI: 10.1002/mgg3.1575
PMCID: PMC8077131

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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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