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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:
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
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author Karch, Corinne
Masser‐Frye, Diane
Limjoco, Jacqueline
Ryan, Sarah E.
Fletcher, Shelley N.
Corbett, Kevin D.
Johnsen, Jill M.
Thornburg, Courtney D.
author_facet Karch, Corinne
Masser‐Frye, Diane
Limjoco, Jacqueline
Ryan, Sarah E.
Fletcher, Shelley N.
Corbett, Kevin D.
Johnsen, Jill M.
Thornburg, Courtney D.
author_sort Karch, Corinne
collection PubMed
description 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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spelling pubmed-73543942020-07-17 The odds and implications of coinheritance of hemophilia A and B Karch, Corinne Masser‐Frye, Diane Limjoco, Jacqueline Ryan, Sarah E. Fletcher, Shelley N. Corbett, Kevin D. Johnsen, Jill M. Thornburg, Courtney D. Res Pract Thromb Haemost Case Reports 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. John Wiley and Sons Inc. 2020-07-12 /pmc/articles/PMC7354394/ /pubmed/32685904 http://dx.doi.org/10.1002/rth2.12345 Text en © 2020 The Authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Karch, Corinne
Masser‐Frye, Diane
Limjoco, Jacqueline
Ryan, Sarah E.
Fletcher, Shelley N.
Corbett, Kevin D.
Johnsen, Jill M.
Thornburg, Courtney D.
The odds and implications of coinheritance of hemophilia A and B
title The odds and implications of coinheritance of hemophilia A and B
title_full The odds and implications of coinheritance of hemophilia A and B
title_fullStr The odds and implications of coinheritance of hemophilia A and B
title_full_unstemmed The odds and implications of coinheritance of hemophilia A and B
title_short The odds and implications of coinheritance of hemophilia A and B
title_sort odds and implications of coinheritance of hemophilia a and b
topic Case Reports
url 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
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