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...

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Detalles Bibliográficos
Autores principales: Karch, Corinne, Masser‐Frye, Diane, Limjoco, Jacqueline, Ryan, Sarah E., Fletcher, Shelley N., Corbett, Kevin D., Johnsen, Jill M., Thornburg, Courtney D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354394/
https://www.ncbi.nlm.nih.gov/pubmed/32685904
http://dx.doi.org/10.1002/rth2.12345
Descripción
Sumario: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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