Making sense of a complex blood deficiency problem

Leonard Ssengoba with his son Arnold Ntongo, who has suffered from haemophilia since he was an infant. photo by Pauline Bangirana.  

In Summary

On April 16, the world marked Haemophilia Day in an effort to raise awareness and provide support for those who are living with the inherited bleeding disorder. The condition is costly, not only to the patients but also their families

Haemophilia is a bleeding disorder which causes abnormal or exaggerated bleeding due to poor blood clotting resulting from lack of certain factors in the blood. According to Dr Susan Nabadda, a haemotopathologist, (a doctor who analyses blood samples) at Mulago hospital, the condition used to be an inherited bleeding disorder but can now be acquired. If an individual lacks a count in factor eight, they are termed as haemophilia A while a Haemophilia B lacks factor nine.

Clotting factors
“When our blood is clotting, there are different clotting factors or proteins that prevent excessive bleeding by forming a clot so that it forms a seal in the place that has been bleeding.

The factors are the building blocks so if one of them is missing, the final clot will not be formed. A single block required in forming a final clot block is termed as a factor and the major ones are factors eight and nine. If one of them is missing, the final clot will not be formed, which makes the bleeding place hard to seal off,” Dr Nabadda highlights.

There are 13 factors needed in blood clotting but the major ones are factors VIII and IX. One might lack any other factors and will not have haemophilia but when you lack factors eight and nine, you suffer from haemophilia.

Dr Nabadda elaborates that the bleeding disorder used to be inherited but now, it can be acquired especially if one has an inhibitor, where the body develops antibodies towards the factor concentrates used to treat bleeding patients, and therefore activates an immune response in the patient to destroy the foreign substances (factor VIII or factor IX). This can limit factor eight in the blood, and this can be detected during treatment.

With acquired haemophilia, the individual has all the factors in the body but something is preventing them from functioning properly. The disease is not a lifestyle-related disease like some of the major diseases.

Causes of acquired haemophilia
“With acquired haemophilia, one’s body is producing the normal factor but something is preventing the factor from functioning properly and this can be because one has acquired antibodies in the body against the factors which prevents factors eight and nine from working properly. This is a very rare situation,” Dr Nabadda explains.

Signs and symptoms
Due to the fact that haemophilia causes abnormal or exaggerated bleeding, it is not a common disease although many have mistaken it for other local conditions.

The condition manifests with abnormal bleeding. One will get bruises or swellings and this leads to internal bleeding. However, once you notice that you are bleeding for longer than usual, it could be a wakeup call but it is no cause for alarm. You could get a check up to be sure.

Haemophilia is a genetic, sex-linked condition, which Dr Nabadda says, mothers carry in their chromosomes but which mainly affects boys. “If we give it to the boys who have only one X chromosome, it manifests.

If a man with haemophilia later meets a woman and they have a girl child, they transfer the X onto the girl and she will become a carrier of the disease.

When the carrier gives birth to a boy, she will transfer the X to the boy and the boy will become a haemophilia patient. So the girls are carriers and that is why it is advisable for one to go for genetic screening so that if you discover you are a carrier, you can avoid passing the condition on to the child and medical assistance can be offered,” explains Dr Nabadda.

Treatment
The right mode of treatment is by replacing the missing factor in the patient’s body although in some patients, the body can form inhibitors and this is similar to the body forming a resistance against something which makes treating and managing the disease difficult.

Haemophilia is a condition in which the clotting factors in one’s blood are malfunctioning, leading to excessive bleeding.

“It is because of continued use of the factor that the body forms antibodies against the factor. At the beginning, it can be managed by the body but with continued use, they overpower the factor hence forming inhibitors,” says Dr Nabadda.

It is important to know which factor one is lacking and this is detected from the test.Once this is established, it can be replaced in the body. Agnes Kisakye, the executive secretary, haemophilia association in the country, shares that treatment and managing haemophilia can be difficult and costly at times especially if one’s body develops inhibitors during the treatment.

“Most of the treatment is acquired from occasional donors since there is no treatment in Uganda. Some of the donors are from countries such as South Africa or Australia, which have haemophilia associations. However, once someone forms inhibitors, it becomes hard to manage the disease because it rejects all possible treatment,” adds Kisakye.