Fast Five Quiz: Hemophilia

Emmanuel C. Besa, MD


September 21, 2021

Because hemophilia is an X-linked, recessive condition, it occurs predominantly in males. Females are usually asymptomatic carriers. However, females may have clinical bleeding if any of the following three conditions is present:

  • Extreme lyonization (ie, inactivation of the normal factor VIII allele in one of the X chromosomes) 

  • 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

In genetic cases, significant deficiency in factor VIII may be evident in the neonatal period. It continues throughout the life of the affected individual. The absence of hemorrhagic manifestations at birth does not exclude hemophilia.

Petechiae usually do not occur in patients with hemophilia. The reason is that petechiae are manifestations of capillary blood leakage, which is typically the result of vasculitis or abnormalities in the number or function of platelets.

Pseudotumors are produced by a slow expansion of repeated hemorrhages in bone or soft tissues. They can be restricted by the fascial planes of a muscle; cause resorption of neighboring bone by pressure-induced ischemia; or develop under the periosteum, leading to erosion of the bony cortex. They develop slowly over months to years and are often asymptomatic, unless pressure on the nerves or vascular compromise occurs. Pseudotumors contain a brownish material and can become infected. The buttocks, pelvis, and thighs are common locations for a pseudotumor.

Read more on the presentation of hemophilia.


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