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Hemophilia Symptoms

Written by Factor Facts on Thursday, 01 December 2011 20:24. Posted in About Hemophilia

The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.

Excessive Bleeding
The extent of bleeding depends on how severe the hemophilia is. People with mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision. Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).

Signs of external bleeding may include:

  • Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
  • Nosebleeds for no obvious reason
  • Heavy bleeding from a minor cut
  • Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding may include:

  • Blood in the urine (from bleeding in the kidneys or bladder)
  • Blood in the stool (from bleeding in the intestines or stomach)
  • Large bruises (from bleeding into the large muscles of the body)
  • Swollen muscles or deep bruising

Bleeding in the Brain
Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury.

The signs and symptoms of bleeding in the brain include:

  • Long-lasting, painful headaches or neck pain or stiffness
  • Repeated vomiting
  • Sleepiness or changes in behavior
  • Sudden weakness or clumsiness of the arms or legs or problems walking
  • Double vision
  • Convulsions or seizures

Joint Bleeds
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding often occurs without obvious injury. At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend. Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.

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How is hemophilia inherited?

Written by Factor Facts on Saturday, 26 November 2011 16:59. Posted in About Hemophilia

How is Hemophilia Inherited

The genes for the clotting factors are located on the X chromosome. Therefore, hemophilia is a X linked disorder i.e, hemophilia is caused when a defective X chromosome gene is inherited.

Females have two X chromosomes, one inherited from the father and the other from the mother; while a male has one X chromosome inherited from the mother and a Y chromosome inherited from the father. Consequently, a direct inheritance of hemophilia from the father to son is not possible. If a female inherits only one defective X chromosome, she does not suffer from the disorder. However, she will remain a lifelong carrier of the disease and may transfer the defective X chromosome to her male offspring. The probability of a female inheriting two defective X chromosomes is low and so this disease is seen predominantly in males. In this way, a crisscross pattern of inheritance is observed in hemophilia.

In such type of inheritance, there is no direct transfer of the affected genes from father to son or mother to daughter. Instead, the affected genes are transferred from the father to his daughter. The daughter is not affected by these genes but remains the carrier. She transfers the affected genes to her son. In all, hemophiliac genes are transferred from grandfather to grandson through the daughter.

Inheritance of hemophilia:

  • If the mother is carrier and father does not have hemophilia, there is 50% chance for acquiring the disease in sons while daughters will have 50% chance of being carriers.
  • If the father is hemophiliac while the mother is not, all sons will be normal but all daughters will be carriers.
  • If the mother is a carrier and father also suffers from hemophilia, sons and daughters, both will have 50% chance of acquiring the disease. Also, daughters have 50% chance of being carriers. However, this case is exceptionally rare as it is unlikely for both the parents to be hemophiliac.

    Sometimes, even when there are no traces of hemophilia among the ancestors, a person may acquire hemophilia. This is due to a change, variation or mutation in the genes.

 

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About Hemophilia

Written by Factor Facts on Monday, 17 October 2011 03:02. Posted in About Hemophilia

Hemophilia (English pronunciation: /hi?m?'f?li?/; also spelled haemophilia in the UK) is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Hemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births.[2] hemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.
 
Like most recessive sex-linked, X chromosome disorders, hemophilia is more likely to occur in males than females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. Because females have two X chromosomes and hemophilia is rare, the chance of a female having two defective copies of the gene is very low, so females are almost exclusively asymptomatic carriers of the disorder. Female carriers can inherit the defective gene from either their mother or father, or it may be a new mutation. Only under rare circumstances do females actually have hemophilia.
 
Hemophilia lowers blood plasma clotting factor levels of the coagulation factors needed for a normal clotting process. Thus when a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation, which is necessary to maintain the blood clot. A hemophiliac does not bleed more intensely than a person without it, but can bleed for a much longer time. In severe hemophiliacs even a minor injury can result in blood loss lasting days or weeks, or even never healing completely. In areas such as the brain or inside joints, this can be fatal or permanently debilitating.