The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single-institution case series |
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Authors: | Elizabeth Soffer Karlene Coleman Glaivy Batsuli |
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Institution: | 1. Department of Pediatrics, Emory University, Atlanta, Georgia, USA;2. Department of Pediatrics, Emory University, Atlanta, Georgia, USA
Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta, Atlanta, Georgia, USA |
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Abstract: | Hemophilia is an inherited X-linked bleeding disorder characterized by deficiencies of factors VIII or IX. Concomitant X chromosome disorders can impact bleeding phenotype, complicating timely diagnosis and disease management. Herein, we describe three cases of female and male pediatric patients with hemophilia A or B diagnosed between 6 days and 4 years old in the setting of skewed X chromosome inactivation, Turner syndrome, or Klinefelter syndrome. All of these cases had significant bleeding symptoms, and two patients required initiation of factor replacement therapy. One female patient developed a factor VIII inhibitor similar to that described in males with hemophilia A. |
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Keywords: | factor IX factor VIII hemophilia intracranial hemorrhage X chromosome inactivation |
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