Hemophilia A overview

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Fahd Yunus, M.D. [2]

Overview

Hemophilia 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 recessive; hence, males are affected while females are carriers or very rarely display a mild phenotype. 1 in 5,000 males are affected.

Historical Perspective

Hemophilia is sometimes referred to as “The Royal Disease”, as it affected many members of the English, German, Russian and Spanish monarchies in the 19th and 20th centuries.

Classification

Hemophilia A may be classified according to the amount of Factor VIII present, resulting in either a mild, moderate, or severe form of the disease.

Pathophysiology

The pathogenesis of hemophilia A is characterized by genetic deficiency in Factor VIII.

Causes

Hemophilia A is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.

Differentiating [Disease] from Other Diseases

Hemophilia A must be differentiated from other diseases that cause abnormal or excessive bleeding

The most important differential diagnosis is that of hemophilia B (also known as Christmas disease) or von Willebrand disease. The former is usually considered if factor VIII levels are normal in a person with a haemophilia phenotype. The latter is excluded on routine testing for that condition.

Epidemiology and Demographics

The incidence of Hemophilia A is approximately 1 per 5,000 to 10,000 males worldwide. In 2016, it was estimated that 20,000 males in the United States were living with Hemophilia A

Risk Factors

Risk factors for development of hemophilia A include being of male sex and having a positive family history of the disease.

Screening

Screening for hemophilia A revolves around obtaining a thorough family history of bleeding.

References

1. History of Bleeding Disorders | National Hemophilia Foundation. Available at . Accessed on July 30, 2016
2. How is Hemophilia Diagnosed? – NHLBI, NIH. Available at . Accessed on July 30, 2016
3. Severity of Hemophilia – World Federation of Hemophilia. Available at . Accessed on July 30,2016
4. Facts | Hemophilia | NCBDDD | CDC. Available at . Accessed on July 30,2016
5. Data & Statistics | Hemophilia | NCBDDD | CDC. Available at Accessed on July 30,2016
6. Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at Accessed on July 30,2016
7. Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from:http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/