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Hemophilia


Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes this disorder.

Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. Approximately 85% have hemophilia A and the remainder has hemophilia B.

The severity of hemophilia is related to the amount of the clotting factor in the blood. About 70% of hemophilia patients have less than one percent of the normal amount and, thus, have severe hemophilia. A small increase in the blood level of the clotting factor, up to five percent of normal, results in mild hemophilia with rare bleeding except after injuries or surgery.

Hemophilia types A and B are inherited diseases passed on from a gene located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. A female carrier of hemophilia has the hemophilia gene on one of her X chromosomes, and there is a 50 percent chance that she may pass the defective gene to her male offspring.

Males who inherit the defective gene will develop hemophilia. Males with hemophilia do not pass the gene to their sons; however, they do pass the gene to their daughters.

Females who inherit the defective gene will become carriers who may, in turn, have a 50 percent chance of passing it on to their children. Although females who inherit the gene generally have no active problems related to hemophilia, some may have other problems associated with bleeding, such as excessive menstrual bleeding, frequent or severe nosebleeds, or bleeding after dental procedures or surgery. In about one-third of hemophilia cases, there is no family history of the disease. These cases are due to a new or spontaneous development of the defective gene in the female.

The most common symptom of hemophilia is excessive, uncontrollable bleeding because of the missing or low-level clotting factor in the blood. Bleeding may occur even when there is no injury. It most often occurs in the joints and in the head.


The following are the other most common symptoms of hemophilia. However, each individual may experience symptoms differently. Symptoms may include:


bruising

Bruises can occur from small accidents, which can result in a large hematoma (a collection of blood under the skin causing swelling).


bleeds easily

A tendency to bleed from the nose, mouth, and gums with minor trauma, teeth brushing, and/or dental work is often an indication of hemophilia.


bleeding into a joint

Hemarthrosis (bleeding into a joint) can cause pain, immobility, and eventually deformity if not medically managed properly. This is the most common site of complications due to hemophilia bleeding. These joint bleeds can lead to chronic, painful, arthritis, deformity, and crippling with repeated occurrences.


bleeding into the muscles

Bleeding into the muscles can cause swelling, pain, and redness. Swelling from excessive blood in these areas can cause increased pressure on tissues and nerves in the area, resulting in permanent damage and/or deformity.


bleeding from injury or bleeding in the brain

Bleeding from injury, or spontaneously in the brain, is the most common cause of death in children with hemophilia and the most serious bleeding complication.


other sources of bleeding

Blood found in the urine or stool may also be a symptom of hemophilia.


2004 WFH Global Survey Summary for people with hemophilia

Demographics

Number of countries in this survey: 96
Percentage of world population covered by 2004 survey: 85%
Number of people identified with hemophilia A and B : 120,812
Number of people identified with von Willebrand disease : 43,334
Number of people identified with other bleeding disorders : 11,384
Total number of people with bleeding disorders identified: 175,530
Number of people with hemophilia A : 93,116
Number of people with hemophilia B : 18,830
Number of countries using national registries to report these numbers: 40
Reported number of people with hemophilia infected with HIV: 6,048
Reported number of people with hemophilia infected with hepatitis C: 26,020

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