The odds and implications of coinheritance of hemophilia A and B

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 counse...

Full description

Saved in:
Bibliographic Details
Published in:Research and practice in thrombosis and haemostasis Vol. 4; no. 5; pp. 931 - 935
Main Authors: Karch, Corinne, Masser-Frye, Diane, Limjoco, Jacqueline, Ryan, Sarah E, Fletcher, Shelley N, Corbett, Kevin D, Johnsen, Jill M, Thornburg, Courtney D
Format: Report
Language:English
Published: 01-07-2020
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Bibliography:ObjectType-Case Study-2
content type line 59
SourceType-Reports-1
ObjectType-Report-1
ISSN:2475-0379
DOI:10.1002/rth2.12345