The odds and implications of coinheritance of hemophilia A and B

Res Pract Thromb Haemost. 2020 Jul 12;4(5):931-935. doi: 10.1002/rth2.12345. eCollection 2020 Jul.

Abstract

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.

Keywords: factor IX; factor VIII; genetic counseling; hemophilia; pedigree; recombination genetic.

Publication types

  • Case Reports