Factor VIII deficiency - Definition and Overview

Haemophilia A (also spelt Hemophilia A or Hæmophilia A) is a blood clotting disorder caused by a mutation of the Factor VIII gene, leading to a deficiency in Factor VIII. It is the most common hemophilia. Inheritance is X-linked; hence, males are affected while female are carriers. 1 in 10,000 males are affected.

Signs and symptoms

Hemophilia leads to a severely increased risk of bleeding from common injuries. The sites are bleeding are:

• joints
• muscles
• stomach

Diagnosis

There is an increased PTT with a normal PT, bleeding time.

Therapy

Most haemophilia patients require supplementation with intravenous factor VIII. Some may manage on desmopressin, if the clotting factor is still partially active.

External links

• OMIM 306700 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700)
• Your genes your health (http://www.yourgenesyourhealth.org/ygyh/mason/ygyh.html?syndrome=hemo&section=whatisit&video=0)