期刊
RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
卷 4, 期 5, 页码 931-935出版社
WILEY
DOI: 10.1002/rth2.12345
关键词
factor IX; factor VIII; genetic counseling; hemophilia; pedigree; recombination genetic
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.
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