Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner’s syndrome

Abstract

A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.

Haemophilia A in a Female Patient with Turner Syndrome

“…14 Although Turner syndrome incidence is 1:2000 to 1:2500, very few number of haemophilia with concomitant Turner syndrome have been reported. 9,12,[15][16][17][18][19][20][21][22] This is the first reported case of Turner syndrome with haemophilia in Bangladesh. Our patient, as she has moderate haemophiliaand had primary amenorrhoea, her symptoms were mainly when becomes injured, therefore, she presented lately.…”

“…7 In certain conditions, it can affect females too: X-chromosome lionization, inactivation of normal X chromosome in a carrier and Turner's syndrome. 1,8,9 Haemophilia is classified clinically on presence of clotting factor activity into -severe when <1% of normal, moderate when 1-5% of normal and mild 5-40% of normal.…”

Female case with misdiagnosis of hemophilia A who underwent total knee arthroplasty: A case report

“…The presence of hemophilia in females is a rare occurrence. A female with hemophilia can occur due to X‐inactivation (Lyonization), daughter of a carrier mother and a father with hemophilia, as well as in Turner's syndrome 6 …”

“…A female with hemophilia can occur due to X-inactivation (Lyonization), daughter of a carrier mother and a father with hemophilia, as well as in Turner's syndrome. 6 Von Willebrand disease (vWD) is a semi-similar bleeding condition to hemophilia. vWD is the most common inherited hemostatic disorder.…”

Oral Surgical and Haematological Management in a Female Patient with Turner Syndrome and Moderate Haemophilia A: Clinical Observation and Case Report

“…Patients with TS are at higher risk of having X-linked recessive disorders due to monosomy. Mutations of genes coding factor VIII (F8) and IX (F9) on the X chromosome are inherited or could appear as de novo and are responsible for coagulation defects in female patients with TS [8,10,11].…”