Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report

• Published in: Journal of medical case reports Vol. 17; no. 1; pp. 480 - 3
• Main Authors: Al Khudari, Rawan, Batesh, Duaa, Habash, Roaa, Hamdn, Othman
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 18.11.2023; BioMed Central; BMC
• Subjects: Blood; Blood Coagulation Factors; Blood Coagulation Tests; Cardiovascular disease; Case reports; Child, Preschool; Chromosomes; Diabetes; Epistaxis; Factor V deficiency; Factor V Deficiency - complications; Factor V Deficiency - genetics; Family medical history; Female; Females; Genetic aspects; Genetic disorders; Genetic testing; Girls; Growth hormones; Hemophilia; Hemophilia A; Hemophilia A - complications; Hemophilia A - diagnosis; Hemophilia A - genetics; Humans; Liver diseases; Medical examination; Mutation; Pediatrics; Rare diseases; Turner syndrome; Turner Syndrome - complications; Turner Syndrome - genetics; X chromosomes; Syria; Turner syndrome; Hemophilia A; Factor V deficiency
• ISSN: 1752-1947; 1752-1947
• DOI: 10.1186/s13256-023-04215-2

Hemophilia is an X-linked, recessive inherited disease caused by a defect or deficiency of one of the coagulation factors (VIII or IX). It is considered a rare disease in females. One of the reasons that hemophilia affects females is Turner syndrome. Hemophilia with Turner syndrome is a very rare case, but the combination of Turner syndrome, hemophilia, and factor V deficiency is an isolated case that has never been recorded in the medical literature. In our case, a 5-year-old Syrian girl presented with hemorrhage of gum, epistaxis, and short stature. The lab tests showed: prolonged activated partial thromboplastin time and prothrombin time with deficiency of factor V (1%) and factor VIII (1%). We diagnosed hemophilia A with factor V deficiency. In addition to short stature, the patient was noted to have spaced nipples and winged neck. We performed karyotyping that showed deletion of one X chromosome (45X0), Turner syndrome. There is no family history of hemophilia or any other genetic disease. In females affected with hemophilia, karyotyping should be performed. It is very important not to exclude the possibility of a combination of deficiency of more than one clotting factor, and to note that deficiency of more than one factor does not necessarily increase the severity of bleeding compared with deficiency of a single factor.