The test that could make all the difference

By Doreen Murungi

Approximately one in seven Ugandans have the sickle cell trait, according to records at the sickle cell clinic, Mulago. “Two to three percent of Ugandan couples are at risk of having a child with sickle cell anaemia.”

The Mulago sickle cell clinic operates fi ve days a week and sees about 250 patients. In addition, the clinic registers 50 new patients each month. In some societies in Asia, the Imam asks potential couples to test for sickle cell anaemia. He cautions on the consequences, but does not stop the marriage.

In Uganda, this policy has not been adopted. It is not mandatory for couples to check for the sickle cell trait before starting a family.

“Give advice to couples and explain the genetic risks of getting a child with sickle cell anaemia so that parents make an informed decision,” urges Dr. Deogratias Munube of the Mulago Hospital Paediatrics and Child Health Department.

Prof. Heather Hume, an oncologist from Canada who has devoted her time to the sickle cell department at Mulago, agrees that sickle cell disease is not something that we often hear or read about, yet it has become a major public health concern. “It is a neglected disease, yet there are couples who are carriers of the sickle cell gene, but are completely unaware,” she says.

“In our societies, women are usually blamed for issues a child may get. Because some men do not know how one gets the disease, they put the blame on the woman,” says Prof. Christopher Ndugwa, who has devoted his career to the sickle cell patient population.

Despite recent high level interest in the disease, including commitment from some African first ladies and the adoption of a UN resolution recognizing sickle cell disease as a public health problem, investment in prevention and management using effective primary measures remains inadequate.

Most countries have inadequate national health policies and plans, and scarce facilities, diagnostic tools, treatment services and trained personnel. According to a 2006 World Health Organisation report, sickle cell disease is the most prevalent genetic disease in the African Region.

Declared a major public health challenge, it is one of the world’s foremost genetic diseases and one of the most lethal genetic diseases.

A number of parents at the sickle cell clinic in Mulago confess that it came as a shock when their children were diagnosed with sickle cell disease.

The ignorance factor “No one in my family had it, I did not even know how people get sickle cell disease. I did not think it was a serious disease until I was told my daughter had it. It is a very painful experience, sometimes I blame myself, I feel like the child is tortured because of my ignorance.

My husband blames it on me, I do not want to have another child because he will suffer,” says a parent with an affected child. “Not a week goes by without us coming to the clinic.”

According to a 2006 World Health Organisation report, of the 900,000 children born annually in Uganda, about 2.8% have sickle cell anaemia. A total of 20,000 (70% to 80%) of these children born with sickle cell anaemia presumably die before their fi fth birthday. This contributes 16.2% (123,000) of annual child deaths in Uganda.

FACTS ON SICKLE CELL ANAEMIA

What is the sickle cell disease?
Sickle cell disease refers to a family of related blood disorders of which sickle cell anaemia is the commonest form worldwide. Sickle cell anaemia is the most severe form of sickle cell disease that almost all persons in Uganda who have sickle cell disease present with.

With this disease, abnormal haemoglobin turns the red blood cells into crescent, or sickle, shapes, which are sticky and stiff and block blood fl ow. That can cause pain in the limbs, serious infections and organ damage.

Is the disease inherited?
Children inherit the disease from their parents. A child will have the disease whenboth parents are carriers of the sickle cell gene. Carriers will not have the disease and will live a normal life, but may have children with sickle cell. “Carriers of sickle cell will have a 25% risk of having a sickle cell patient, 50% chance of having children who are carriers and 25% chance of having normal children,” says Hume.

Who is prone?
Ndugwa says most of the tribes are prone, but some more than others. Recent studies in Uganda by Dr. Andrew Okwi show that the established prevalence of the sickle sell trait in eastern Uganda was 17.5% compared to 13.4% and 3%
in Bundibugyo and Mbarara/ Ntungamo, respectively.

Up to 1.7% of the children in ea stern Uganda tested positive for haemoglobin sickle cell anaemia, relative to 3% in Bundibugyo.

“We can only make hypothesis why this occurs, the reasons are not welldocumented,” Munube adds. People who are at high risk of having a child with sickle cell anaemia and are planning to have children may want to consider counselling. An expert can explain the risks and the choices that are available.

In developed countries like the US, medication is given to reduce complications of the disease. According to online sources, with early prenatal care and careful monitoring throughout pregnancy, women with sickle cell disease can have a healthy pregnancy.

Warning signs Signs start between three to six months, but sometimes they may be delayed. The child will have recurrent fevers. Unfortunately, many children with the disease have signs of one suffering from malaria. “Many children are treated for malaria even when they do not have it,” Ndugwa says. The others are painful swollen feet and hands.

“This is almost the sure sign,” he adds. Munube adds that in other cases, children develop severe anaemia (have little blood due to a defi ciency of red blood cells).

They also have severe lung infections (pneumonia) and in worse cases, they develop stroke, which weakens the body, mainly the limbs.

Diagnosis
There are several methods to test for the sickle cell trait, but there is a test called the sickling test where about 2ml of blood is drawn using an automated machine. A report is given in percentages and results interpreted.

A test for sickle cell costs between sh30,000 to sh50,000, depending on the laboratory and the type of test. Treatment Sickle cell is not curable, but can be managed. Mild pain episodes can be treated at home with over-thecounter
pain medications.

A doctor may also prescribe medication, depending on the severity of the condition. Affected individuals are encouraged to drink plenty of fluids, avoid getting too hot or too cold, avoid places with high altitudes where oxygen levels are low and avoid extreme exercise and emotional stress.

How long can a patient live?
The oldest person with sickle cell disease at the Mulago clinic is above 60 years, but because some children are not diagnosed early and due to complications, children can die as early as one year.

Compiled by Vision Reporter