Haemophilia Causes, Symptoms and Treatment

by Munira Qaid Johar
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Haemophilia is a blood disorder that results in difficulty in clotting of blood and aggravated blood flow. This disease is inherited in families and usually, the female members are the carrier of the disease, while the males just get affected by the disease.

Haemophilia is of two types haemophilia A and haemophilia B. Hemophilia A and B are different from each other as in each case mutation or the process of permanent change in genotype is different.

Hemophilia A and B are both linked to X chromosome which makes males more prone to the disease. It is a recessive genotype pattern and is one among the most common X linked genetic diseases.

In case of a male child, if the mother is the carrier of haemophilia then the child will inherit the disease. In case of a girl child, if the X chromosome contributed by both the parents is hemophilic then the child will suffer from haemophilia. In case only one X chromosome has haemophilia genes present in it then the girl child will become the carrier of the disease. She might transfer the altered genes to the next generation that is her children.

What are the causes of haemophilia?
Haemophilia is a genetic disorder which happens due to unwanted alteration in the genes which are responsible for the coding of protein that helps in process of blood clotting. There is total thirteen protein which assists in the blood clotting in case of any cut or bruise, these proteins are called clotting factor. These proteins come together to form a mesh-like structure by linking with each other and prevents the body from blood loss.

In case of haemophilia, the clotting factor VIII and clotting factor IX are altered genetically, which results in malfunctioning of clotting factors. Hemophilia A is caused due to a mutation in clotting factor VIII and haemophilia B happens due to alteration in the genotype of clotting factor IX. Hemophilia A is more common as compared to haemophilia B.

There one more hemophilic condition which is very rare called haemophilia C, it happens due to the deficiency of clotting factor XI. This is not an X linked recessive disease and can affect both males and females equally.

What are the symptoms of haemophilia?

The most common symptom of haemophilia is bleeding profusely when injured. But if a person is severely affected by haemophilia then bleeding becomes more rampant and might happen even without any injury or cut.

There are certain places in the body where bleeding is more common. A person having haemophilia may have bleeding into the joints, this condition is called Hemarthrosis. In this case, the knees and ankle starts to become week and is disfigured after a while. To cure this surgery is recommended sometimes.
Other medical conditions that arise due to haemophilia is bleeding in muscles, blood coming out of mouth and nostrils, haemorrhage in skull and flow of blood while urinating.

What is the treatment of haemophilia?

There is a number of options available to treat haemophilia. The most common treatment is taking clotting promoters through injections. Other treatment options are taking therapies like DDAVP, physical therapy, fibrin sealants or opting for blood transfusion.

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