Haemophilia bD67

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Christmas disease; Factor IX deficiency; Factor IX Deficiency; HEMB; Hemophilia; Hemophilia B

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.

Aggeler et al, 1952; Biggs et al, 1952

DefinitionThis section has been translated automatically.

Hereditary activity deficiency of factor IX (Christmas factor) with reduced blood thromboplastin formation, reduced conversion of prothrombin to thrombin and reduced conversion of fibrinogen to fibrin.

Occurrence/EpidemiologyThis section has been translated automatically.

Proportion of all haemophilia diseases: 20-25%. Incidence (Federal Republic of Germany): 1/20,000 men.

EtiopathogenesisThis section has been translated automatically.

X-linked mutations of the HEMB coagulation factor IX gene (HEMB gene; F9 gene; gene locus: Xq27.1-q27.2 F9).

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 IX < 1%. Medium haemophilia: factor IX 1-4%.
  • Mild haemophilia: factor IX 5-25%.
  • Subhemophilic hemophilia: factor IX 25-45%. Bleeding time: normal; clotting time: prolonged; quickset: normal; prothrombin consumption: reduced.

Internal therapyThis section has been translated automatically.

Substitution of factor IX.

LiteratureThis section has been translated automatically.

  1. Aggeler PM, White SG, Glendening MB, Page EW, Leake TB, Bates G (1952) Plasma thromboplastin component (PTC) deficiency: a new disease resembling hemophilia. Proc Soc Exp Biol Med 79: 692-694
  2. Biggs R, Douglas AS, Macfarlane RG, Dacie JV, Pitney WR, Merskey C, O'Brien JR (1952) Christmas disease: a condition previously mistaken for haemophilia. Brit Med J 2: 1378-1382

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer