1.
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
2.
Blood Adv
; 2(3): 308, 2018 02 13.
Article
in English
| MEDLINE
| ID: mdl-29439953