Dispelling common myths about haemophilia

By Winfridah Muthee

Have you by any chance heard of a case where a parent takes their son for a routine circumcision and after the procedure and the wound is dressed it keeps on bleeding. They don’t know what to do because the bleeding doesn’t stop and they are worried for the patient’s life.

Haemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9). The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems.

The medications needed to stop bleeding in hemophilia patients are called factor concentrates.

What Causes Hemophilia

Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This change or mutation can prevent the clotting protein from working properly or to be missing altogether.

The genes are located on the X chromosome.

Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent.

The X chromosome contains many genes that are not present on the Y chromosome. This means that males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies thus, males can have hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene.

Females can also have hemophilia, but this is much rarer. In such cases both X chromosomes are affected or one is affected and the other is missing or inactive. In these females, bleeding symptoms may be similar to males with hemophilia.

A female with one affected X chromosome is a carrier of hemophilia. Sometimes a female who is a carrier can have symptoms of hemophilia. In addition, she can pass the affected X chromosome with the clotting factor gene mutation on to her children

About one-third of the time, the baby with hemophilia is the first one in the family to be affected with a mutation in the gene for the clotting factor.

Hemophilia can result in:

Bleeding within joints that can lead to chronic joint disease and pain

Bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis

Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.

Types of hemophilia

There are two common types of hemophilia;

Classic Hemophilia also known as hemophilia A that is caused by lack or decrease of clotting factor VIII.

Hemophilia B also called Christmas Disease is caused by lack or decrease of clotting factor IX.

Signs and Symptoms

Signs of hemophilia include:

Bleeding into the joints that can cause swelling and pain or tightness in the joints. It often affects the knees, elbows, and ankles.

Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).

Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.

Bleeding after circumcision (surgery performed on male to remove the hood of skin, called the foreskin)

Bleeding after having shots, such as vaccinations.

Bleeding in the head of an infant after a difficult delivery.

Blood in the urine or stool.

Frequent and hard-to-stop nosebleed.

Those Affected

An estimated 5,000 Kenyans are said to be living with hemophilia.

Hemophilia A is more common than hemophilia B, and about half of those affected have the severe form.

Hemophilia affects people from all racial and ethnic groups.

Diagnosis

Many people who have or have had family members with hemophilia should make sure their baby boys get tested soon after birth.

About one-third of babies who are diagnosed with hemophilia have a new mutation not present in other family members. In these cases, a doctor might check for hemophilia if a newborn is showing certain signs of hemophilia.

To make a diagnosis, doctors perform blood tests to show if the blood is clotting properly.

If it doesn’t, then they do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder. These blood tests would show the type of hemophilia and the severity.

Treatment

The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (administering through a vein) commercially prepared factor concentrates

People with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis (called prophylaxis), can even prevent most bleeding episodes.

Inhibitors

About 15-20 percent of people with hemophilia develop an antibody (called an inhibitor) that stops the clotting factors from being able to clot the blood and stop bleeding.

Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. People with inhibitors often experience more joint disease and other problems from bleeding that result in a reduced quality of life.

In rare cases, a person can develop hemophilia later in life.  The majority of cases involve middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy.

Appropriate treatment always resolves the condition.

Mauritius and South Africa are the 2 sub-Saharan countries that has made significant progress in diagnosing and treating hemophilia patients for free.

Ministry of Health should train health workers to recognize and treat hemophilia using factor or transfusing with blood. When neither is available, they should be instructed to use ice, compression and elevation.

Without proper, timely treatment or physiotherapy, hemophilia can cause blood to swell joints and lead to severe pain. This causes patients to limp or hobble.

It is therefore necessary to diagnose and treat hemophilia in young age so as to be able to manage joints easily and prevent deformity.

Government should through the ministry of health help locate more people with hemophilia, train health workers, patients, parents and other family members on how to inject or infuse factor on hemophilia patients and educate them that hemophilia is a treatable medical condition.

With improvement in diagnostic facilities more cases will probably come to light.

Doctors should be able to send factor to patients who cannot reach the hospital especially when there are chronic traffic jams or when they cannot manage to reach the hospital for any reason whatsoever.

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