The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single‐institution case series
Year: 2023
Type: article
Study design: Case Report
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.
Source: Pediatric Blood & Cancer
DOI: 10.1002/pbc.30400
Institutions: Emory University, Children's Healthcare of Atlanta
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4367833809