Haemophilia aD66.D6

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Hemophilia; hemophilia A

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

HistoryThis section has been translated automatically.

Otto, 1803; Hopff, 1828

DefinitionThis section has been translated automatically.

Hereditary activity deficiency of factor VIII (anti-hemophilic globulin).

Occurrence/EpidemiologyThis section has been translated automatically.

Proportion of all haemophilia diseases: approx. 75%. Incidence (Federal Republic of Germany): 1/5.000 men.

EtiopathogenesisThis section has been translated automatically.

X-linked mutations of the HEMA Coagulation factor VIII gene (HEMA gene; F8 gene; gene locus: Xq28).

ManifestationThis section has been translated automatically.

Mostly occurring in men. Women are conductors.

Clinical featuresThis section has been translated automatically.

Small area bleeding after minor trauma. Characteristic recurrent bleeding in muscles and joints with subsequent muscular atrophies and contractures, joint stiffening. More frequent spontaneous haemorrhaging in severe haemophilia in adolescence (great urge to move), rare in moderately severe haemophilia.

LaboratoryThis section has been translated automatically.

  • Severe haemophilia: factor VIII < 1%. Moderate haemophilia: factor VIII 1-4%. Mild haemophilia: factor VIII 5-25%. Sub-hemophilic haemophilia: factor VIII 25-45%.
  • Normal bleeding time; prolonged coagulation time; normal quick-value; reduced prothrombin consumption.

TherapyThis section has been translated automatically.

Substitution of factor VIII.

LiteratureThis section has been translated automatically.

  1. Hopff (1828) On haemophilia or the hereditary predisposition to fatal bleeding Dissertation, University of Zurich
  2. Otto JC (1803) An account of an hemorrhagic disposition existing in certain families. Med Repository 6: 1-4

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer