The odds and implications of coinheritance of hemophilia A and B

Research and Practice in Thrombosis and Haemostasis
Corinne KarchCourtney D Thornburg

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.

References

Sep 13, 2001·Clinical and Laboratory Haematology·S ShettyD Mohanty
Jun 8, 2002·Nature Genetics·Augustine KongKari Stefansson
Sep 24, 2010·Haemophilia : the Official Journal of the World Federation of Hemophilia·S SiddiqA Mumford
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Sep 7, 2016·Blood Reviews·Laura L Swystun, Paula D James
Nov 22, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·P D JamesUNKNOWN Global Emerging HEmostasis Experts Panel (GEHEP)
Jul 28, 2017·Haemophilia : the Official Journal of the World Federation of Hemophilia·A PrabhudesaiS Shetty
May 18, 2018·Blood·Michael U CallaghanSteven W Pipe
Jun 8, 2018·Haemophilia : the Official Journal of the World Federation of Hemophilia·B A KonkleUNKNOWN My Life Our Future programme

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Methods Mentioned

BETA
Genotyping

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