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The odds and implications of coinheritance of hemophilia A and B

机译:血友病A和B的互噬细胞的可能性和含义

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We report 2 patients with coinheritance of the X‐linked bleeding disorders hemophilia A and hemophilia B. We describe the family pedigrees, clinical features, and genotyping. The case report addresses the key clinical questions of how to manage patients with both hemophilia A and B and how to counsel families regarding recurrence risk. The patients with coinherited hemophilia A and B require a combination of factor VIII and factor IX replacement to achieve hemostasis. We calculated the estimated genomic meiotic recombination frequency between F8 and F9 to be 38%. The findings in these cases are consistent with this calculation. These findings provide critical information for management of families with coinherited hemophilia A and B.
机译:我们报告2例患有X-Linked出血障碍血友病A和血友病B的患者。我们描述了家庭章程,临床特征和基因分型。案例报告解决了如何管理血友病A和B患者的关键临床问题,以及如何劝告有关复发风险的家庭。血友病患者A和B的患者需要组合VIII和因子IX替代物来实现止血。我们计算了F8和F9之间的估计基因组重组频率为38%。这些情况下的发现与此计算一致。这些调查结果为具有僵化的血友病A和B的家庭提供了关键信息。

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