Open AccessThe odds and implications of coinheritance of hemophilia A and B
Author(s) -
Karch Corinne,
MasserFrye Diane,
Limjoco Jacqueline,
Ryan Sarah E.,
Fletcher Shelley N.,
Corbett Kevin D.,
Johnsen Jill M.,
Thornburg Courtney D.
Publication year - 2020
Publication title -
research and practice in thrombosis and haemostasis
Language(s) - English
Resource type - Journals
ISSN - 2475-0379
DOI - 10.1002/rth2.12345
Subject(s) - pedigree chart , odds , medicine , genotyping , factor ix , odds ratio , hemostasis , genetics , gene , biology , genotype , logistic regression
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.