Oldest genetic disorder few Kenyans know about

Haemophilia Comprehensive Care Clinic will be opened at the Coast General Hospital to mark the triumphs of persons with Haemophilia. (Photo: Maarufu Mohamed, Standard)

Today, Kenya joins the globe in celebrating the triumphs of persons with a bleeding disorder known as Haemophilia.

From writings of rabbinical readings, haemophilia existed as early as the 2nd century, AD, in the laws and traditions that gave reprieve for baby boys from being circumcised especially if their two older brothers died during the rite of passage.

This year the event in Kenya will be marked in Mombasa to mark the opening of the Haemophilia Comprehensive Care Clinic at the Coast General Hospital, bringing the number of specialist haemophilia clinic to three after Kenyatta National Hospital and Moi Teaching and Referral Hospital in Eldoret.

This year’s theme, ‘lighting it up red’ seeks to increase visibility by creating awareness about this condition that impairs the body’s ability to make blood clots, a process needed to stop bleeding.

Haematologist Kibet Shikuku estimates there are more than 4,300 people with haemophilia in Kenya. However, only 600 haemophilia patients have been diagnosed and registered to attend a specialised comprehensive care clinic for the condition.

Collaborative approach

Dr Shikuku, hailed the new centre specialised to take care of haemophilia patients in the Coastal region, adding it will require a multi-sectoral collaborative approach of medicine to efficiently treat and manage haemophilia.

“This is a milestone in the development and strengthening of healthcare services for haemophilia patients in Kenya while lifting the financial, emotional and psychological burden associated with haemophilia to both patients and  parents,” said Dr Shikuku.

Witty facts on haemophilia

Haemophilia and the symptoms

Haemophilia is a group of inherited blood disorders where the blood does not clot properly.

It was initially referred to as a royal disease because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. Her eighth child, Leopold, had the disease and suffered from frequent bleeds. The disease was also recorded in the Spanish, German and Russian Royal families.

An individual suffering from the disease lacks a protein called a clotting factor, which works with platelets to stop bleeding at the site of an injury.

In case of an injury, the person bleeds spontaneously or longer in case of surgery.

This happens because of a defect in one of the clotting factor genes on the X chromosome.

Acquired and inherited haemophilia

Acquired haemophilia affects both women as well as men, can occur at any age although it is more common in adults.

It occurs when the immune system recognises the body’s own factor eight as a foreign protein and thus makes an antibody to destroy it. This antibody is also known as an inhibitor because it inhibits its work.

 

Expected signs and symptoms

Some of the most prevalent signs and symptoms include excessive bleeding and easy bruising. The bleeding can occur internally or externally.

Excessive internal bleeding is evident when there is blood in the urine or stools and presence of large, deep bruises. Bleeding can also happen within joints, like knees and elbows, causing them to become swollen, hot to touch, and painful to move.

Bleeding in the brain is evident in case the person experiences persistent headaches, vomiting, behavioural changes, clumsiness, eye problems, paralysis, and seizures.

Men and haemophilia

Being a sex-linked disorder, it is more common in males than females. Females have XX sex chromosomes while males have XY sex chromosomes. Males lack a second X chromosome to make up for the defective gene. Females are carriers of haemophilia, but they are unlikely to have the disorder. For a girl to have haemophilia, she must have the abnormal gene on both of her X chromosomes, a rare occurrence. For a female carrier, there are four possible outcomes for each pregnancy:

1. A girl who is not a carrier

2. A girl who is a carrier

3. A boy without haemophilia

4. A boy with haemophilia

Operating haemophiliacs and replacement therapy

The basic treatment to stop or prevent bleeding in people with haemophilia A and B is factor replacement therapy. Replacement therapy can be a form of treatment for bleeds or a preventive measure. The concentrates come from two sources:

1. Human plasma (a component of blood) or

2. A genetically engineered cell line made by DNA technology, called recombinant.

Minor injuries like bruises do not need replacement therapy.

Prevalence of Haemophilia

Globally, one in every 5,000 males is haemophiliac.

In Kenya, there are 450 people diagnosed with haemophilia out of an estimated 4,000 men. About 3,600 people remain undiagnosed with haemophilia alone.

Haemophilia A and B

The diagnosis for this disease is determined through a blood test.

Hemophilia A, also known as classic hemophilia is associated with X-chromosome, which prominently afflicts males. It is due to the deficiency or complete absence of factor VIII in the blood. Women are mostly carriers of this condition, and transmit the condition to male children.

Hemophilia B is the second most common kind of bleeding disorder, also termed as factor IX deficiency. The disease is prominently genetic, although in 30 per cent of cases, the condition has been reported without any family history of the disease. It is caused by deficiency or absence of clotting factor IX.

Initiation rites, circumcision of haemophiliacs

Families face anxiety and social stigma if one of them has this bleeding disease and cannot undergo the cultural rite of passage, circumcision.

Circumcision is a minor surgery that has few complications. However in persons with haemophilia, the spontaneous and prolonged bleeding can lead to death if undisclosed.

Low self-esteem and haemophilia

Young men with haemophilia may develop low self-esteem that can trigger suicidal tendencies if they do not participate in play to avoid injuries that lead to bleeds.

Support groups for haemophiliacs play a great role in psychological support for both the patience, their parents, guardians and family members because they share experiences thus strengthening their resolve to deal with this condition.

Inhibitors effects on treatment

Inhibitors make it more difficult to stop a bleeding episode because they prevent the treatment from working. They make the replacement therapy less effective and this could cause severe complications for the patient.

Haemophilia patients who develop inhibitors are twice as likely to be hospitalised to deal with complications of the disease.

 A lab test is necessary to establish whether a person with haemophilia has developed inhibitors.

Arthritis and joint pains

The disease causes crippling joint pain. The most commonly affected muscles are those of the arms and leg.

Haemophilia can lead to hemarthropathies - bleeding into the joint space of a joint which causes stiffness and pain. The blood also causes scars inside the joint and hardening of the joint space, making the pain more pronounced.

However it is difficult for doctors to distinguish between joint pain caused by arthritis and that caused by bleeds by haemophilia.

Sources: World Health Organisation, www.haemophilia.org, World Federation of Haemophilia  and Kenya Haemophilia Association.

The writer is a Health and Medicine Editor at The Conversation Africa