Dictionary > Haemophilia

Haemophilia

Definition
noun
A condition that is characterized by uncontrolled bleeding from the mouth, gums, lips, and tongue, haematuria, haemarthoses, and subcutaneous and intramuscular haemorrhages, and is caused usually by a defect in the gene resulting in the deficiency or impairment in the production of particular blood coagulation factors
Supplement
Haemophilia is a congenital tendency to uncontrolled bleeding from the mouth, gums, lips, and tongue. Other symptoms include haematuria, haemarthoses, and subcutaneous and intramuscular haemorrhages. Individuals suffering from haemophilia may be in danger from too much blood loss from wounds or injuries that would not heal due to a loss or an impairment in the normal blood clotting.
There are two major forms of haemophilia: (1) haemophilia A (also called classic haemophilia or factor VIII deficiency) and (2) haemophilia B (also called Christmas disease or factor IX deficiency). Haemophilia is often affecting males and is transmitted from mother to son. Both haemophilia A and haemophilia B are caused by a gene defect near the telomere of the long arm of the X chromosome although the loci affected are different in the two forms. The nonfunctional gene results in the deficiency of factor VIII (in haemophilia A) and of factor IX (in haemophilia B).
Other forms, such as haemophilia C (due to a deficiency in factor XI) and parahaemophilia (due to a deficiency in factor V), are relatively uncommon types of haemophilia. Unlike haemophilia A and B, haemophilia C has an autosomal recessive inheritance involving a gene defect on chromosome 4.
Haemophilia is predominantly inherited and congenital. However, it may also be acquired especially in individuals with cancers and autoimmune disorders.
Variant(s):

  • hemophilia

Synonym(s):

  • bleeder’s disease
  • See also:

    Related term(s):

  • haemophilia A
  • haemophilia B
  • haemophilia C
  • parahaemophilia
  • Related form(s):

    • haemophiliac (adjective, of or pertaining to hemophilia)


    You will also like...

    Plant biology
    Plant Biology

    Plantlife can be studied at a variety of levels, from the molecular, genetic and biochemical level through organelles, c..

    Fossil trilobite imprint in the sediment
    Insects

    There are more species of insects than any other species combined. This surely illustrates that insects have the selecti..

    Physical growth
    Physical Development in Humans

    This tutorial elaborates on the physical development of humans, particularly from puberty to adulthood. Read this tutori..

    Hominid
    The Hominids

    The hominid family diversified from the apes around 6 to 8 million years ago. Since then, the evolutionary path has prov..

    Chromosomes X and Y and Sex Determination
    Chromosomes X and Y and Sex Determination

    This tutorial looks at sex determination via the sex chromosomes, X and Y. Read it to get more info on X and Y chromosom..

    Circulation
    Circulation

    The circulatory system is key to the transport of vital biomolecules and nutrients throughout the body. Learn about the ..

    Related Articles...

    No related articles found

    See all Related Topics