Female Hemophilia
Keywords:
Female hemophilia, Hemophilia, Turner's syndromeAbstract
Abstract : A one-year and 7-month old girl with severe hemophilia A (F VIII-C 1%) was reported. She had two elder brothers who succumbed to excessive bleeding in early childhood. No other relative with bleeding disorder or consanguinous marriage was known. The patient was also diagnosed with Tumer's syndrome (45.XO). Through the inkage analysis on the intron 18 and 22
of factor VIII gene she inherited only the maternal X chromoscme without the patemal X chromosome: Additionally, Southerm blot analysis of the inversion of intron 22 of factor VII gene, which is commonly found in severe hemophilia A patient, was performed in the patient and her parent. The result demonstrated that the patient had an inversion of intron 22 and her mother was a carrier of inversion of intron 22. Therefore, the reported female mophiliac patient had a Turner's syndrome and inherited the hemophillac gene of inversion of intron 22 on the X chromosome from her hemophiliac carrier mother.
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ว่าไพวรณ จวนสัมฤทธิ์, พันธศักดิ์ ศุกระฤกษ์ วีระศักดิ์ ศาสนกุล, พงษ์จันทร์ หัตถีรัตน์, ภัทรพร อิศรางกูร ณ อยุธยา. การป้องกันโรคฮีโมพีเลียโดยการเลือกเพศบุตร. วารสารโลหิตวิทยาและเวชศาสตร์บริการโลหิต 2539;1:39-42.
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