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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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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. |
format | Online Article Text |
id | pubmed-7354394 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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