Hemophilia of North Carolina

Hemophilia of North Carolina

Since 1977, in service to the people of North Carolina
affected by bleeding disorders

260 Town Hall Dr., Suite A, Morrisville, NC 27560
1-800-990-5557 (toll free)

Hemophilia


What is Hemophilia?

Treating a BleedHemophilia is an inherited bleeding disorder, predominantly affecting males. There are two major forms of the disease: hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). People with no family history can also develop hemophilia A. The National Hemophilia Foundation says this accounts for a third of all cases. It usually happens after a new or spontaneous gene mutation.

Hemophilia may result from gene mutations: point mutations involving a single nucleotide, deletions of all or parts of the gene, and mutations affecting gene regulation. About 50% of cases of severe hemophilia A result from a major inversion of a section of the tip of the long arm of the X chromosome. Because factor VIII and factor IX genes are located on the X chromosome, hemophilia affects males almost exclusively. Daughters of hemophiliacs will be obligatory carriers, but sons will be normal. Each son of a carrier has a 50% chance of being a hemophiliac, and each daughter has a 50% chance of being a carrier. Rarely, random inactivation of one of the two X chromosomes in early embryonic life will result in a carrier's having a low enough factor VIII or IX level to experience abnormal bleeding.

References

  • Hemophilia — MedlinePlus – A service of the U.S. National Library of Medicine and the National Institutes of Health (NIH)
  • What is Hemophilia? — from the National Heart, Lung, and Blood Institute, NIH
  • Haemophilia — from Wikipedia