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Pediatr Blood Cancer ; 70(7): e30400, 2023 07.
Article in English | MEDLINE | ID: mdl-37132158

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.


Subject(s)
Hemophilia A , Turner Syndrome , Male , Child , Female , Humans , Hemophilia A/complications , Factor VIII , Hemorrhage/complications , Turner Syndrome/complications , Phenotype , X Chromosome
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