Genetic Diagnosis and Prenatal Diagnosis of a Rare FVIII Family With Haemophilia A.

doi:10.1111/jcmm.70275

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Article

Genetic Diagnosis and Prenatal Diagnosis of a Rare FVIII Family With Haemophilia A.

Journal of cellular and molecular medicine - 1 Dec 2024

Yang Yaya, Wang Yidan, Gao Jian

Abstract excerpt

It is very difficult to identify the genetic variation of haemophilia A. We examined a case report from a sizable, uncommon haemophilia family, analysing the application of DHPLC in the diagnosis of haemophilia A. The comprehensive clinical data and laboratory assessments of the proband within the family were meticulously compiled. Subsequent to this, tests were conducted to evaluate the activated partial...

Topics

Humans
Hemophilia A
Factor VIII
Female
Prenatal Diagnosis
Male
Pedigree
Pregnancy
Exons
Mutation
Adult
DNA Copy Number Variations
Partial Thromboplastin Time

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PMID: 39663887
DOI: 10.1111/jcmm.70275
PMCID: PMC11635173

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