{Reference Type}: Journal Article
{Title}: The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single-institution case series.
{Author}: Soffer E;Coleman K;Batsuli G;
{Journal}: Pediatr Blood Cancer
{Volume}: 70
{Issue}: 7
{Year}: 2023 07 2
{Factor}: 3.838
{DOI}: 10.1002/pbc.30400
{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.