Hameophilia

Hameophilia is a disorder of the blood coagulating mechanism. This causes bleeding from injuries for a longer time than normal. This can happen inside the body too, at knees, elbows or ankles. The clotting factors in the blood are certain special proteins. There are twenty types of such proteins. Hameophilia is a condition in which one or more of these proteins are not produced adequately.

Haemophilia A and haemophilia B are the two main types. The clotting factor VIII is not sufficiently available in haemophilia A. This is also called classical haemophilia. Eighty percent of the cases are of this type. Haemophilia B is deficient in the clotting factor IX. This is also called Christmas disease. Twenty percent of the cases are of this type. Depending on the deficiency of the clotting factor, the haemophilia falls into three categories, which are mild, moderate and severe.

Hameophilia affects men, generally, even though it is a rare disease.

What causes haemophilia

Commonly, deficiency of clotting factors VIII and IX cause this disease. This disease comes by heritage. A gene is responsible for inadequate production of the clotting factors. The parents pass on this deficiency to their children. Around 70% percent of haemophilia cases are attributed to inheritance.

Every person has two chromosome inherited from his or her parents. Females inherit X chromosome from father and mother as well. Males inherit X chromosome from mother and Y chromosome from father. X chromosome has the gene which controls VIII and IX clotting factors. As men have only one X chromosome, if it has defective gene it causes haemophilia in them. However, they cannot pass on the gene to their sons. Mother, via the X chromosome, passes it on to son.

Mostly, females with defective gene in both X chromosomes have haemophilia. If they have a defective gene in one X chromosome only, they just carry the condition.

Mutated gene in the sperm or egg can cause haemophilia in the child.

What are the symptoms of haemophilia

The symptoms depend on severity. The symptoms include bleeding for a longer time than normal, from the injuries. Nose bleeding or unexplained bleeding could be the symptoms. The injuries can have unusual dimensions. A warm feeling in the joint, or swelling or pain in the joint can be the symptoms. Faeces or urine may have blood in them. Internal bleeding at the joints may occur without an external cause. If this is not treated, it causes muscle spasm. It can repeat in the same place. It may result in arthritis or damage to the joint.

A severe haemophilia can cause bleeding in or around the spinal cord or brain. Injury to the head or spinal cord can lead to this condition. The affected person may have headache, nausea, vomiting or fits.

However, children with mild haemophilia may not have obvious symptoms.

How haemophilia is diagnosed

The doctor will obtain the family history and asks about abnormal bleedings in the past. The doctor orders for blood test to find out problems in blood clotting. The blood test provides information on the clotting factors and the type of haemophilia. The doctor measures the clotting time, which is seven minutes normally. The blood test can reveal if the woman is a carrier of haemophilia.

In pregnant women, Chorionic Villus Sampling test is done to find out if the child has haemophilia.

How haemophilia is treated

Haemophilia is not curable. The basis of the treatment involves replacement therapy, where the deficient or missing clotting factor is replaced.

Hormone desmopressin treats mild haemophilia A. It does not require replacement therapy.

Replacing the clotting factor by injection may be necessary for moderate to severe haemophilia. This lasts for only twelve hours. Therefore, repeated injections may be required for severe bleedings. A regular treatment involves two to three injections a week. This prevents damage to joints. Synthetic clotting factors, known as recombinant factors, are used in treatment to avoid certain risks that a donated blood can cause.