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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.
Afiliação
  • Karch C; Virginia Commonwealth University School of Medicine Richmond Virginia USA.
  • Masser-Frye D; Rady Children's Hospital San Diego San Diego California USA.
  • Limjoco J; Rady Children's Hospital San Diego San Diego California USA.
  • Ryan SE; Bloodworks Northwest Seattle Washington USA.
  • Fletcher SN; Bloodworks Northwest Seattle Washington USA.
  • Corbett KD; Department of Cellular and Molecular Medicine University of California San Diego La Jolla California USA.
  • Johnsen JM; Bloodworks Northwest Seattle Washington USA.
  • Thornburg CD; Department of Medicine University of Washington Seattle Washington USA.
Res Pract Thromb Haemost ; 4(5): 931-935, 2020 Jul.
Article em En | MEDLINE | ID: mdl-32685904
ABSTRACT
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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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article