The Application of Clinical Genetics (Oct 2022)

Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia

  • Chuansumrit A,
  • Sasanakul W,
  • Sirachainan N,
  • Santiwatana S,
  • Kadegasem P,
  • Wongwerawattanakoon P,
  • Tungbubpha N,
  • Chantaraamporn J

Journal volume & issue
Vol. Volume 15
pp. 133 – 143

Abstract

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Ampaiwan Chuansumrit,1 Werasak Sasanakul,1 Nongnuch Sirachainan,1 Suttikarn Santiwatana,1 Praguywan Kadegasem,1 Pakawan Wongwerawattanakoon,2 Noppawan Tungbubpha,1 Juthamard Chantaraamporn1 1Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; 2Department of Nursing, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCorrespondence: Ampaiwan Chuansumrit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand, Tel +66 2 2011749, Fax +66 2 2011748, Email [email protected]: 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.Keywords: women and girls, families with haemophilia, haemophilia carrier, severe haemophilia, mild haemophilia

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