Over the past 3 decades, faculty at Ramathibodi Hospital, Mahidol University, Thailand, have implemented a successful pipeline to diagnose and manage women and girls from families with a hemophilia history.
“A comprehensive approach starting from history taking, self-assessing bleeding score, physical examination, and phenotypic and genotypic analyses would be helpful to confirm the definitive diagnosis of hemophilia carrier status and hemophilia among women/girls at risk,” Chuansumrit and coauthors wrote in The Application of Clinical Genetics.
By following this approach, the researchers confirmed the status of all obligate hemophilia carriers. Moreover, they identified 159 carriers and 146 noncarriers among potential carriers. Most factor VIII gene mutations (53.9%) were inversions. The analysis of 20 potential carriers could not be completed due to the lack of genotypic data. Two girls from severe hemophilia A families received a codiagnosis of severe hemophilia A and Turner’s syndrome.
Fifty-four prenatal diagnoses were requested from 1996 to 2021. These corresponded to 49 women at risk of offspring with moderate or severe hemophilia (21 were primigravida and 33 were multigravida). The results revealed 21 normal males, 12 males with hemophilia A, and 21 females with normal or carrier status.
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To ensure appropriate care, patients and carriers were given an identification card and a referral letter to receive medical assistance at the hospital in the town where they lived. Moreover, they maintained close contact with the International Hemophilia Training Center-Bangkok, which provided 24-hour hotline telephone consultations for both patients and healthcare providers. Affected women and girls were prescribed desmopressin and limited factor concentrate.
Since 2018, Ramathibodi Hospital has been using a verified translated-Thai self-assessment of bleeding scores, which revealed a median bleeding assessment score of 0. Six in 17 women with mild hemophilia had a bleeding assessment score equal to or greater than 3.
The retrospective analysis conducted by the researchers included 462 women and girls from 243 families with hemophilia.
Chuansumrit A, Sasanakul W, Sirachainan N, et al. Three-decade successive establishment of care for women/girls from families with haemophilia. Appl Clin Genet. 2022;15:133-143. doi:10.2147/TACG.S381683