What you need to know about haemophilia

haemophilia

BY RUTH ROSE AKONGO 

There are many disorders that may lead to spontaneous bleeding. Examples are bleeding in urine, in stool, uncontrolled menstruation, and post-operative bleeding. All these lead to a disease called haemophilia.

Haemophilia means your blood cannot clot properly. Contrary to popular belief, this does not mean you are liable to bleed to death from a minor cut, and neither would you bleed faster than other people if you get injured. You can, however, bleed for longer.

According to Dr Godfrey Mulindwa, the Director Medical Services at Uganda Christian University’s Allan Galpin Health Centre (AGHC), haemophilia is a hereditary bleeding disorder that results from either total absence or a reduction or inhibition of clotting factors.

“Usually, when somebody sustains an injury and blood vessels are severed, the body responds by causing them to narrow and platelets are mobilised to that site to form a clot. Clotting factors (proteins in blood) are further mobilised to strengthen the clot,” Dr Mulindwa explains.

He said further that the genes for haemophilia A and B are in the X chromosome. For this reason, haemophilia is called an X-linked (sex-linked) disorder.

Genetically, a female is described by the sex chromosomes XX and the male XY, where Y is usually empty.

“A mother is usually a carrier and there is a 50 percent likelihood that some of her male children will present with haemophilia,” he added.

When the father has haemophilia and the mother does not, none of the sons will have haemophilia but all the daughters will carry the gene.

Symptoms 

However, females can only have haemophilia if their father has it and their mother is a carrier, although this is very uncommon.

This usually occurs around the joints and muscles, causing pain and stiffness. It can also lead to damage of joints over time.

Diagnosis and treatment 

D i a g n o s i n g haemophilia is done by blood tests. Currently, there is only one haemophilia screening machine in the country, located at Mulago Hospital in the haematology d e p a r t m e n t .

The treatment is factor replacement therapy where the missing factors are administered intravenously as opposed to direct blood derivatives that may have risks of infection transmission though the process is costly.

Mulago in Uganda is the hospital with facilities for factor replacement.

It is estimated that at least 3,500 Ugandans have haemophilia.

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