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Article

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.

Human mutation - 1 Jan 2026

Younis Nancy S, Alkabsh Rahma M, Nasser Alqahtani Shahad M, Aljuail Hajer, Alhashim Manar A, Bokhamsin Shahad A, Albaqshi Layla J, Alqadhib Salsabil F, Aldandan Jumanah A, Alshakhs Zahra A, Altaweel Maryam H, Mohamed Maged E

Abstract excerpt

Background: Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. Objectives: This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care. Methods: Published studies on IBD-related genetic mutations in Saudis were...

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Source

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Identifiers

PMID: 41929524
DOI: 10.1155/humu/2418005
PMCID: PMC13042357

Genes

ADAMTS13
ANTXR1
BCL11A
DIAPH1
F5
F7
F8
HBA1
HBA2
HBB
HBS1L
MPL
MTHFR
MYB
SERPINC1
THPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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