marjolein

Interview: Regular checks for organ damage

Marjolein Peters (57) is a pediatrician/hematologist at the AMC hospital in Amsterdam.

What is sickle cell disease?

It’s a congenital disease in which the red blood cells take on the form of a sickle. Sickle cells are less strong and break down earlier. Due to their sickle shape, they hook into each other causing clots that clog up the vessels. This causes pain or the tissue in the area surrounding area to die. In most cases, the pain comes from within the bones.

How common is sickle cell disease?

One in seven people with a dark skin is a carrier of sickle cell disease. Carriers are healthy and have no symptoms compatible with sickle cell disease. Sixty to eighty new patients are diagnosed every year. Forty to sixty new cases are diagnosed via the heel prick test. The other twenty to forty children are diagnosed at an older age because they only came to the Netherlands after they were born; for example, in the event of immigration or adoption and not being diagnosed in their country of origin. In total, there are between six and eight hundred children in the Netherlands with sickle cell disease. The number of children has increased significantly in recent years; in 1992, only ten children were diagnosed per year, last year, that figure had risen to eighty. The disease mainly occurs in and around Amsterdam and Rotterdam. The Hague is a hotspot for thalassemia, another form of hereditary anemia.

How serious is sickle cell disease?

Sickle cell disease is a serious disorder with lifelong symptoms but the severity thereof is hard to predict on a case-by-case basis. In the Netherlands, advanced treatment is available and patients with sickle cell disease can grow old. In Africa, the situation is very different, many children with sickle cell disease die at a very young age.

Sickle cell disease can be divided into two groups:
Patients with HbSS suffer from the severe form.
Patients with HbSC or HbS beta thalassemia+ suffer fewer symptoms and also the anemia is less severe.

What are the symptoms?

It’s difficult to predict what kind of symptoms someone with sickle cell disease is going to suffer from. All patients with sickle cell disease have anemia, causing them to fatigue rapidly, especially during exercise. The anemia is caused by the accelerated degradation of the red blood cells, often causing patients to look yellow and they also have an increased risk of gallstones. Finally, you can suffer from a combination of symptoms due to the red blood cells hooking into each other, causing the painful bone crises, among other things. That is a deep, severe pain in the long bones (arms or legs) or back. Due to sickle in the spleen, the spleen stops working, thereby increasing the chance of infections.

How often can a crisis occur?

Again, this is difficult to predict. A patient can have a lot of crises in a particular phase of his or her life, followed by a few years of relevant calm. Patients show major differences between them. The pain can be very severe at times and last for several days. This is really hard on a child and heart-breaking to see. It often drives parents to despair to see their child suffering like this. Fortunately, we have effective pain relief.

Can sickle cell disease be cured?

The disease can’t be cured, but it can be treated. You need to make sure that you drink plenty of fluids, especially in hot weather, eat well, sleep well and that you take your medication every day. Until the age of 12, children are given antibiotics twice a day (Broxil) to prevent infections. Once they’ve turned 12, they should only take it when they have a fever. This is very important. They are also prescribed folic acid, which is necessary to produce blood. We further advise them to avoid cold as much as possible. So wrap up warm during those chilly winter months! Swimming in cold water can cause a painful bone crisis.

What’s the role of the pediatrician?

The pediatrician must be alert to any forerunners of organ damage; so this means regular testing of the kidney function combined with ultrasounds and X-rays of the heart, head and lungs. A Transcranial Doppler is made every six months. This test measures the flow rate of the blood vessels in the head. An increased flow rate indicates a narrowing within the vessels and therefore requires action. Up to 1993, 10% of children suffered half-sided paralysis due to a cerebral infarction. Since we started measuring the flow rate in the cerebral vessels, there are no more serious infarcts, since we intervene early. If we detect an increased flow rate due to a narrowing in the blood vessel, we start giving blood transfusions. This reduces the percentage of sickle cells in the blood. We can prescribe hydroxyurea to suppress the symptoms of sickle in many cases. This ensures that the bone marrow produces fewer sickle cells, resulting in fewer painful crises.

Why do patients have to drink a lot?

By drinking a lot you can make sure that the blood cells sickle less, thereby reducing the risk of a painful bone crisis.

What can the parents do?

First of all, they must understand what sickle cell disease involves. They must understand the rules of living with sickle cell disease and know when to raise the alarm when things go wrong, thus ensuring they go to the hospital on time. Sickle cell disease is an abstract concept for many parents. They often only understand the problem when the child actually becomes ill.

Do most parents cope?

For many parents, it’s very difficult to have a child with a chronic illness and many mothers are also single and/or live on benefits. In such circumstances, money for transport to the hospital or healthy food causes a problem. As a pediatrician, you always have to pay attention to the strength of the parents, particularly that of the mother. If necessary, we ask the social worker for assistance to organise home care, extra financial support or Dutch classes, among other things.

Sickle cell disease is hereditary. What does that mean for the parents?

Parents of a child with sickle cell disease receive information about the risk of sickle cell disease in any subsequent children. If both parents are carriers, a subsequent child has a 1 in 4 chance of developing sickle cell disease. We tell the parents what options they have to prevent having a child with the disease; such as not conceiving or adopting a child; another option is prenatal diagnosis and termination of a pregnancy in the case of a child with the disease. There is also the possibility of PGD, which stands for Pre-implantation Genetic Diagnostics. The woman is pre-treated with hormones, an egg is fertilised outside the uterus and after three days, the embryo can be tested to see whether it’s healthy or not. The healthy embryo is then placed back. This latter option has a long waiting list and the success rate is very low, only 10% is successful. For some parents, prenatal diagnosis is a difficult choice, for religious reasons for example. In that case, termination of pregnancy is not an option.

What do you do in terms of prevention?

The heel prick tests whether a child has the disease, but also whether it is a carrier. Every year, eight hundred to a thousand carriers of sickle cell disease are diagnosed by means of the heel prick test. This result has no bearing on the health of the child. The result provides genetic information on the parents. It confirms that one of the parents or both are carriers as well. In that case, it is important that both parents are tested and if they’re both carriers, they can be referred to a clinical geneticist for hereditary advice. We need to better inform people at risk of having a child with sickle cell disease. Wouldn’t it be a great idea to reach out to all 16 to 18 year-olds and offer a test?

Interviews