Hemophilia

The hemophilia is a constitutional anomaly of the blood Coagulation in connection with a deficit of one of the factors of coagulation. One speaks then about defects of the Thromboplastinoformation Intrinsèque: these defects must with a deficiency of any of the following factors: XII, XI, IX or VIII, or with the presence of Anticoagulant S against one of these factors.

The clinical demonstrations of the disease are proportional to the deficit of the factor of coagulation. The two clinical demonstrations most characteristic of the disease are the Hémorragie S in the articulations (Hémarthrose S) and in the muscles (Hématome S).
La disease can be severe with demonstrations as of the first year of life or light with very few demonstrations.
Il exists two types of hemophilia in connection with deficits of different factors of coagulation:

  • the attack of gene of the Facteur VIII corresponds to the hemophilia has or traditional hemophilia.

  • the attack of gene of the Factor IX with the hemophilia B or Christmas disease.
  • the attack of gene of the Facteur XI corresponds to the hemophilia C or Maladie of Rosenthal.

History of the disease

This disease is known since millenia. The Hebrews of the Antiquité knew it already and never practiced the circumcision of the boys from which the mother came from a family having lost a child by hemorrhage at the time of a circoncision.
Léopold, wire of the queen Victoria of the United Kingdom, is born hemophiliac. Two of the girls of the Victoria queen are carrying and transmit what will end up being indicated the “royal disease” in the royal families of Europe and Russia. Léopold will die with old 31 years of Brain hemorrhage.
The most famous descendant reached by this disease is Alexis, wire of the last Russian tsar Nicolas II. The tsarina Alexandra Fedorovna wife of Nicolas II will undergo the influence of Raspoutine because she thought that this one could cure his/her son.

The epidemic of the AIDS was particularly fatal for the hemophiliacs. Those, needing regular transfusions, were numerous to contract the virus. In France, that gave place to a great political scandal, the Affaire of blood contaminated.

Other names

Hemophilia has

Deficit in factor VIII or traditional hemophilia. to be differentiated from the disease of von Willebrand, where it is the attack of the Facteur von Willebrand which involves a fall of factor VIII.

Hemophilia B

Deficit in factor IX or disease of Christmas.

Hemophilia C

Deficit in factor XI or disease of Rosenthal.

Etiologies

Hemophilia has

Change of the Gene F8 of the Locus q28 of the Chromosome X coding factor VIII of coagulation. This change often consists of a inversion of the Intron 22 is Délétion S and Insertion S

Hemophilia B

Change of the Gene F9 of the Locus q27 of the Chromosome X coding factor IX of coagulation. There exists more than 2100 changes being able to relate to this gene

Incidence of the disease

In both cases, all the types of populations are touched. But the disease is hereditary. The women are seldom reached disease severely.

Hemophilia has

The Incidence of this disease is of 1 on 4  000 births of boys with a Prevalence of 1 on 10  000 in the countries with high health facilities.

Hemophilia B

The Incidence of this disease is of 1 on 20  000 births of boys with a Prevalence of 1 on 25  000 in the countries with high health facilities.

Description

The blood of a person reached of hemophilia does not coagulate normally. The bleedings are not more abundant, nor more rapids which the normal, but last longer. Many people believe that the hemophiliacs bleed much with the least small cut. It is a myth. The surface wounds are in general not serious, they do not bleed more than in nonan hemophiliac if not a simple adhesive plaster makes it possible to stop the saignement.
The internal bleedings, on the other hand, have of much more serious consequences, in particular if they relate to the articulations, especially the knees, the ankles and the elbows, as well as soft fabrics and the muscles.

Diagnosis

Examinations of orientation

Rest on the current examinations practiced in the basic exploration of the Hémostase:

  • the Temps of prothrombine is normal

  • the rate of the plates is normal
  • the Temps of cephalin activated is increased
  • Contrairement to a widespread idea the Temps of bleeding is generally normal

Examinations of diagnosis

Any person hemophiliac must be dealt with in center of reference of treatment of the hemophilia.

Hemophilia has

  • Proportioning of the activity of the factor of coagulation VIII

Hemophilia B

  • Proportioning of the activity of the factor of coagulation IX

Severity

The gravity of the hemophilia is according to the percentage of activity of the overdrawn factor of coagulation. The normal activity is located between 50 and 150%, correspond to the normal interval of activity of the factor of coagulation VIII or IX in the sang.

  • light hemophilia : between 5 and 30% of the normal interval of activity of the Factor of coagulation.

    • Symptoms:
      • Can never not present of disorder of bleeding
      • Pas of bleeding to less than one wound
      • Risque of bleeding prolonged after an surgical operation or a lesion engraves
      • rare Hémorragies.

  • average hemophilia : between 1 and 5% of the normal interval of activity of the factor of coagulation.

    • Symptoms:
      • Risk of bleeding prolonged after an surgical operation, a serious lesion or a dental intervention.
      • Can present episodes of bleeding approximately once a month.
      • seldom Bleeds, even never without obvious reason.

  • the hemophilia engraves : less than 1% of the normal interval of activity of the factor of coagulation.

    • Symptoms:
      • frequent Hemorrhages on the level of the muscles or the articulations (mainly knees, elbows and ankles).
      • Can present episodes of bleeding one or twice per week.
      • Can bleed without obvious reason.

Transmission of the disease

  • Recessive related to X chromosome but 1/3 of the hemophilia corresponds to a change of novo

the genetic Council

It is necessary to make the distinction between an individual carrying and an individual reached the disease. Indeed, one can carry gene of the disease without having the symptoms of them. Here is the explanation:

The genes responsible for the hemophilia are related to the sexual chromosome X. For recall, a male individual has a pair of Chromosome S XY and a individual female XX. For more facility, one will note an X chromosome contaminated Xh.

An individual receives from his father X chromosome in the case of a girl and Y in the case of a boy. In both cases, the chromosome received by the mother is X.

If the father is reached disease (Xh Y), it will transmit its Xh to his daughters (who will be carrying) but her Y healthy with its sons (which will not be reached).

If a woman is carrying (Xh X), it can transmit its chromosome contaminated to her daughters and make carrying individuals of them (Xh X) or to its sons and make individuals reached of them (Xh Y).

It is thus observed that a man who carries Xh is always reached by the disease whereas the woman is only carrying (but will be able to transmit it to its descendants).

During the 20th century of the rare cases women hemophiliacs (Xh Xh) were indexed. It could be a question women resulting from the union of a father hemophiliac (Xh Y) and of a surrogate mother (X Xh), but the probability of such an ascent remains weak. Cases were also indexed where the woman presents one X touched (Xh X) and proclamation however a severe hemophilia; that is due to a serious disorder of the inactivation of X healthy (X). In addition carrying women can also present more or less serious symptoms. They are called " carrying atrate faible".

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