What it means to live with hemophilia

According to their mother Agnes Agiko, the children have to be constantly monitored so that symptoms of bleeding are caught early and treated. Photos/Beatrice Nakibuuka

What you need to know:

  • Although hemophilia presents challenges to daily life, improvements in treatment have made it possible for people with the bleeding disorder to live a normal life.

Agnes Agiko and Richard Kaddu have been married for 14 years. When their first son was seven months old, they took him for circumcision. On returning home, Agiko put the baby to sleep only to find him in a pool of blood a few minutes later.
“I thought the wound had not been dressed properly so I took him to a nearby clinic where he was given vitamin K. However, the bleeding did not stop and I was advised to take him to a hospital for better management,” she says.
At Kibuli Hospital in Kampala, the baby was transfused. The wound was then stitched and dressed again and they were discharged. However, when they arrived home, the bleeding had not stopped. The following day, she took him back to hospital where the wound was dressed again. On the fourth day, when Agiko removed the plaster, the bleeding worsened, so she took him back to hospital.

“This time, the doctor suspected a bleeding disorder. The wound was dressed but we were admitted for a week for monitoring. When he was discharged, the doctor warned us not to remove the bandage for two weeks,” Agiko recalls. 
The parents started noticing that whenever their son would go to play, he would come home with swellings and would develop red patches whenever he fell. When he was five years old, his knee joints started swelling and when his father took him to Mulago National Referral Hospital, the doctor recommended surgery. Kaddu could not afford the Shs1.6m that was required and so, they returned home. However, another doctor recommended a test to screen for hemophilia. 

The test was done at LMK laboratory in Kampala at a cost of Shs400,000 and the results showed that Agiko’s son had severe type B haemophilia with a factor level below one percent.
“We were told there was no cure for the disease and had to learn to live with it. Back at Mulago National Referral Hospital, we paid Shs300,000 as membership fee to join the Hemophilia Foundation of Uganda where we would get support.
The couple’s second child, a girl, has no problem but their third born, a boy, also has the same condition. The two boys' lives are so risk-prone that even a simple fall can turn into an emergency. They can neither play nor go on a holiday. 

What is haemophilia?
Haemophilia is a group of inherited blood disorders characterised by episodes of prolonged bleeding following an injury or can occur spontaneously. People with haemophilia lack clotting factors eight and nine that are responsible for clotting of blood.
According to Dr Phillip Kasirye, a paediatric haematologist at Mulago National Referral Hospital, when one is injured, several changes, including constriction or narrowing of the injured vessel, movement of blood cells called platelets that cause clot formation and mobilisation of factors known as clotting factors that help to cement the formed clot happen. 
“With hemophilia, the clot does not form properly and as a result, one bleeds for a longer time than usual. Hemophilia affects people from all racial and ethnic groups but the disease is more common in males than females. The females can, however, be carriers with mild levels of absence of the clotting factors,” Dr Kasirye says. 

The disease is usually passed on from parents to the male child with the female being a carrier, a condition referred to as X-linked. However, in rare cases, it could arise when the body forms antibodies that attack its own clotting factors and this could occur in both males and females.
“There are two types of hemophilia; type A, where the affected person lacks enough of clotting factor VIII (factor eight ) and type B, where the affected person lacks enough of factor IX (factor nine ), with the latter causing a less severe form of the disease. It is estimated that type A forms about 80 percent of all hemophiliacs,” Dr Kasirye says. 
Globally,  it is estimated that there is one patient for every 10, 0000 people. In 2021, almost 234,000 people were confirmed to have hemophilia worldwide. There are about 4,000 Ugandans living with the disease and yet only two percent of these have been properly diagnosed using a standard test.  As many as 98 percent of patients are yet to be diagnosed and could be at risk of death from excessive bleeding.

Signs and symptoms
Hemophiliacs suffer prolonged or excessive bleeding even with minor injuries and after surgeries. These include circumcision, cuts and injuries incurred during play activity or work and tooth extraction, among others. 
The disease is often associated with bleeding into the joints (knees, elbow, and ankles) with swelling, stiffness and pain. It could also include bleeding under the skin following minor injuries (trauma). In severe forms, one could bleed in vital organs including the brain and internal organs in the abdomen
Patients may also suffer bleeding into the joints and skin (causing bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).

There could also be bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth. To confirm that one has haemophilia, a blood tests to establish the levels of clotting factor in persons with bleeding tendencies or with a suggestive family history should be done. 
It is also encouraged that assessment for bleeding disorders is done in all patients going for surgery.

There is no cure for hemophilia but the best and most efficient way to stop bleeding in people living with haemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is typically done by injecting clotting factor concentrates into a person's veins. 
However, in Uganda, the factor concentrates can only be found at Mulago National Referral Hospital, after mobilisation by the Haemophilia Foundation of Uganda. Agiko remarks that there are several times when the factor is out of stock.
“When there is no factor, the child can be treated with fresh frozen plasma from blood and iron supplements but they take longer to stop the bleeding compared to the 30 minutes the factor takes,” she says.

Physiotherapy and home care
In the treatment of hemophilia, since bleeding happens in the joints and muscles, physiotherapy is an important aspect of treating injuries and managing the disease. 
When a muscle or joint bleeds, it becomes painful. The patient then finds a comfortable position to rest the painful joint that would then help to stop the bleeding. However, with time, the joint or muscle at the bleeding point becomes hard and the range of extension reduces (becomes less flexible), limiting movement and function.
The role of the physiotherapist is to help restore movement and function in the area where the bleeding has occurred using exercise.
Also, Dr Ann Grace Nakalyango, a physiotherapist at Mulago National Referral Hospital, warns that some bleeding comes with neurological defects and in this case, strengthening exercises and supportive splints come in handy.

The strengthening exercises would then help to strengthen the muscles and joints to reduce the risk of further bleeding. During the exercises, we do a slow progression of the exercises until the patient recovers full functioning of the muscles or joints. 
After the patient has healed, we recommend that they continue doing the routine exercises but not over doing it because it may trigger bleeding.
Dr Nakalyango remarks that for people living with hemophilia, exercises are selected for different individuals depending on the type of bleed and where it has happened, adjusting to the stage of healing, the amount of exercise a patient can take in as well as their age. 
The exercises range from play, walking as well as those held in water. She adds that exercises done in water are more enjoyable because the patient does not feel the pain and the weight of the body so the range of motion is better while the patient is in water.
“In order to prevent bleeding which is common among people with haemophilia, it is recommended that such people engage in strengthening exercises for their joints and muscles and eat a balanced diet containing plenty of fruits and vegetables. These boost the immune system and reduce the risk of bleeding,” she says. 

● It is also important to maintain good dental hygiene by applying proper brushing techniques while brushing their teeth to reduce gum bleeds and see a dentist after every six months.
● The people that often get bleeds or are at risk of bleeding are advised to get a prophylaxis factor as a booster.
● A patient should also avoid medicines that thin the blood such as aspirin, ibuprofen and diclofenac and instead use paracetamol or even first aid protocols to manage pain and swelling. 
● If a person with hemophilia starts bleeding, the caretaker should apply ice on the affected area and apply bandages to protect the joints and reduce the pain and swelling.
● One should also use walking aids such as crutches and walking frames to ease pain, splints and braces to rest the joint as you plan to transfer the person to hospital for factor infusion if the bleeding is a major bleed.