How does the presentation of hemophilia A differ in females?

Updated: Apr 08, 2020
  • Author: Douglass A Drelich, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Because hemophilia is an X-linked, recessive condition, it occurs predominantly in males. Females usually are asymptomatic carriers. However, mild hemophilia may be more common in carriers than previously recognized. In 1 study, 5 of 55 patients with mild hemophilia (factor levels 5-50%) were girls. [22]

Females may have clinical bleeding due to hemophilia if any of the following 3 conditions is present:

  • Extreme lyonization (ie, inactivation of the normal FVIII allele in one of the X chromosomes) [23]

  • Homozygosity for the hemophilia gene (ie, father with hemophilia and mother who is a carrier, two independent mutations, or some combination of inheritance and new mutations)

  • Turner syndrome (XO) associated with the affected hemophilia gene

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