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Abstract: The factor Ⅷ gene is located on the X chromosome, making heamophilia A, a sex-linked disorder.Thus on pedigree grounds all daughters of such patients are obligate carriers.One female case of heamophilia A was reported and related literatures were reviewed.
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Key words:
- heamophilia A /
- female /
- X-link
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[1] 周静, 闫乃红, 贾永前, 等.女性A型血友病FⅧ基因突变分析[J].四川大学学报医学版, 2006, 37 (3):492-494.
[2] 陆晔玲, 丁秋兰, 戴菁, 等.FⅧ基因内含子22倒位及X染色体非随机灭活导致的女性血友病A[J].中华检验医学杂志, 2008, 31 (5):528-532.
[3] 蔡晓红, 王学峰, 方怡, 等.女性血友病A FⅧ基因的双重杂合突变-1例基因分析[J].血栓与止血学杂志, 2005, 11 (2):52-56.
[4] FAVIER R, LAVERGNE J M, COASTA J M, et al.Un-balance X-chromosome inactivation with a novel FⅧgene mutation resulting in severs hemophilia A in a fe-male[J].Blood, 2000, 96:4373-4375.
[5] DAVID D, MORAIS S, VENTURA C, et al.Female hae-mophiliac homozygous for the FⅧintron 22 inversionmutation with transcriptional inactivation of one of the FⅧalleles[J].Heamophilia, 2003, 9:125-130.
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