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Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.

American journal of medical genetics. Part A - 1 Sept 2024

Ho Stephanie K L, Ng Samuel Y L, Yung Tsz-Kwai, Mok Myth T S, Yiu Wing-Chung, Cheng Heidi H Y, Cheng Shirley S W, Luk Ho-Ming, Lo Ivan F M, Kan Anita S Y

Abstract excerpt

Hemophilia A is a rare bleeding disorder with variable expressivity and allelic heterogeneity. Despite the advancement of prenatal diagnostics and molecular studies, the number of studies reviewing the reproductive choices of hemophilia A carriers and affected individuals remains limited. Through this retrospective review, we hope to gain a deeper understanding of hemophilia A-affected individuals' clinical and...

Topics

Humans
Hemophilia A
Female
Male
Heterozygote
Adult
Mutation
Factor VIII
Retrospective Studies
Genetic Association Studies
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38747677
DOI: 10.1002/ajmg.a.63657

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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