Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia
Issued Date
2022-01-01
Resource Type
eISSN
1178704X
Scopus ID
2-s2.0-85139145842
Journal Title
Application of Clinical Genetics
Volume
15
Start Page
133
End Page
143
Rights Holder(s)
SCOPUS
Bibliographic Citation
Application of Clinical Genetics Vol.15 (2022) , 133-143
Suggested Citation
Chuansumrit A., Sasanakul W., Sirachainan N., Santiwatana S., Kadegasem P., Wongwerawattanakoon P., Tungbubpha N., Chantaraamporn J. Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia. Application of Clinical Genetics Vol.15 (2022) , 133-143. 143. doi:10.2147/TACG.S381683 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/86285
Title
Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia
Author's Affiliation
Other Contributor(s)
Abstract
Objective: The study aimed to report a 3-decade successive establishment of care for women/girls from families with haemophilia. Methods: A retrospective analysis was conducted on 462 women/girls from 243 families from 1987 to 2021. Results: Combining phenotypic analysis of coagulation factor and genotypic analysis of either linkage analysis or mutation detection confirmed the status of all obligate haemophilia carriers (A118, B19). For potential carrier, 159 proven carriers (A130, B29) and 146 noncarrier status (A126, B20) were diagnosed except 20 potential carriers (A16, B4). Only 54 prenatal diagnoses were requested resulting in normal males (n = 21), males with haemophilia A (n = 12) and females with either normal or carrier status (n = 21). Additionally, 40 women/girls with haemophilia carrier received a diagnosis of severe haemophilia A with Turner’s syndrome (n = 2) and mild haemophilia (A31, B7). The skewed X-chromosome inactivation of the nonmutant factor VIII/IX carrying X-chromosome of 8% (2/25) was found in mild haemophilia. Factor concentrate and desmopressin are prescribed for these affected women/girls. The response of women/girls with either haemophilia carrier or haemophilia was amazement with their religious beliefs and cultural acceptance. Conclusion: Appropriate care for women/girls from families with haemophilia concerning diagnosis and management of haemophilia and carrier has been successively established.