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Hemophilia

Congenital Malformations and Chromosomal Abnormalities

Hemophilia is a group of hereditary bleeding disorders caused by a deficiency of a specific blood clotting factor, most often factor VIII (hemophilia A) or factor IX (hemophilia B). The deficiency impairs the blood's ability to clot properly, leading to prolonged bleeding after injury and, in more severe forms, bleeding into joints and muscles without an obvious cause. It results from mutations in genes carried on the X chromosome and occurs overwhelmingly in males.

Facts
Classification
Body System
Lymphatic or Immune System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 1
Condition Class
Inherited genetic bleeding disorder 1
Causative Agent
Deficiency of clotting factor VIII (hemophilia A) or factor IX (hemophilia B) 1
Prevalence
Hemophilia A about 1 in 5,000 to 10,000 males at birth; hemophilia B about 1 in 40,000 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Partially Attested
First Described
1803 1
Earlier references exist in the Talmud and in tenth-century Arab surgical writing; 1803 is the first modern medical account.
Connections

Associated With

Treated By

Sources
1. Wikipedia: Haemophilia
  • Lead section, definition sentence
    is a mostly inherited genetic disorder that impairs the body's ability to make blood clots
  • Lead section, types sentence
    haemophilia A, which occurs due to low amounts of clotting factor VIII, and haemophilia B, which occurs due to low levels of clotting factor IX
  • History section
    In 1803, John Conrad Otto, a Philadelphian physician, wrote an account about 'a hemorrhagic disposition existing in certain families'
  • Epidemiology section
    Haemophilia A affects about 1 in 5,000-10,000, while haemophilia B affects about 1 in 40,000 males at birth.
  • Wikipedia infobox, field/specialty parameter
    Haematology
  • Lead section, transmission-route statement
    Haemophilia (British English), or hemophilia (American English) (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
View the Source
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
View the Source
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Down syndrome and Cystic fibrosis.
View the Source
Frequently Asked Questions

What is the difference between hemophilia A and hemophilia B?

Type A lacks clotting factor VIII; type B lacks clotting factor IX.

Both are inherited bleeding disorders caused by a deficient blood clotting factor. Hemophilia A occurs due to low amounts of clotting factor VIII, and hemophilia B occurs due to low levels of clotting factor IX. In both, the blood clots poorly, so bleeding after injury is prolonged and severe forms can bleed into joints and muscles without an obvious cause.

How common is hemophilia?

About 1 in 5,000 to 10,000 males for type A and 1 in 40,000 for type B.

Hemophilia A affects about 1 in 5,000 to 10,000 males at birth, while hemophilia B affects about 1 in 40,000 males at birth. Because the responsible genes sit on the X chromosome, the condition occurs overwhelmingly in males. The first account of a hemorrhagic disposition in certain families was written in 1803 by the Philadelphia physician John Conrad Otto.
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