Haemophilia is a disease that prevents blood from clotting properly. It is an inherited disease that occurs in 1 in 10,000 births. Because it is linked to an alteration in the X chromosome, it affects only males, with females being asymptomatic carriers.
Depending on the clotting factor deficiency, haemophilia is classified into three types of haemophilia of varying severity: A (lack of factor VII), B (lack of factor IX), C (lack of factor XI).
The most severe cases are manifested by excessive bleeding in the skin, joints, muscles, nose, etc. Bleeding starts in childhood and may be spontaneous without the need for trauma.
Diagnosis is clinical by questioning, including family history and physical examination. Diagnostic suspicion is confirmed by blood tests. Once diagnosed, genetic testing of the family should be performed.
Treatment consists of replacing the missing clotting factor. Prevention of bleeding is very important, avoiding situations where there is a risk of haemorrhage.
- W Keith Hoots, MD. Clinical manifestations and diagnosis of hemophilia. UpToDate, Noviembre, 2014.
- W Keith Hoots, MD. Treatment of haemophilia. UpToDate, Junio, 2016.
- Federación Mundial de la hemofilia. FMH. Guías para el tratamiento de la hemofilia. Ed 2.
- J. C. Reverter. Enfermedades de la hemostasia. Farreras Rozman. Medicina Interna, ed 18. Capítulo 210
- Valder R. trastornos de la coagulación. Harrison. Principios de Medicina Interna, 19e. Capítulo 141.
