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Sickle cell anaemia: The enemy within

By SOLa OGUNDIPE

When the pain caused by sickle cell disease comes, it is like being hit by a tornado,” someone once stated.” In all honesty, the pain is difficult to describe,” another proffered. “It’s right in your bones and you can’t move, eat or talk, said a third person. “You feel it in your back, your joints and in your kidneys.” The description continues, endlessly. This was the kind of scenario at play when Janet first complained of stomach pain. At that time in question, Bridget, her mother never gave thought to the fact that her daughter might be going down with a complication of sickle cell disease.

Although at birth, the little girl had been diagnosed with the blood disorder, there had been little or no problems throughout most of her infancy. But that that particular day, for the first time ever, Janet was admitted to the hospital. It was an emergency because she in a crisis. Two days later, she was transferred to another facility and given blood transfusions. The next day she seemed to be improving and even had enough energy to draw – one of her favorite activities. On the fourth day, she complained of pain and feeling hot throughout the day.

That evening she suffered a stroke, and on by the evening of the next day, she died of complications from it.

“I didn’t know what was happening or why it was happening,” said the dead girl’s confused mother. So shocked and surprised was Bridget over the sudden death of her child she could not even cry. “I never in my wildest dreams ever foresee a stroke happening to my daughter. She was only four years old for God’s sake,” she lamented. But Bridget’s worries were far from over. Her youngest daughter, Julia, 2, also has sickle cell disease and there is real concern she may also have a stroke.

Biola’s plight was similar. Soon after she was told that her little daughter, Lolade, had sickle cell disease shortly after birth, she had prepared for the worst. The fact that she later learned that the girl had a 40 percent chance of suffering a stroke at age 5 because of the disease, did little to make her feel better. “I knew of the risk, but at the time, I didn’t expect t would happen to my child,” she stated.

But one day, shortly after being picked up from school, Lolade complained that she did not feel well. Biola noticed a slight droop on the right side of her daughter’s face and within two hours, Lolade was taken to the emergency room and diagnosed with stroke. It was a devastating blow for the family.

“I am a single parent. I didn’t know what I was going to do,” said the grieving mother.

“I never had anyone in my family have a stroke. It was very alarming to me.” Doctors told her Lolade could have long-term deficits, including diminished motor and comprehension skills. Lolade remained in the hospital for two weeks. She had difficulty swallowing, chewing and grasping with her right hand. Biola worked with her on regaining grasping skills through crafts and repetition exercises.

Today Lolade has made gains in recovery, does well in school and enjoys playing with her peers. But she still has difficulty with things such as riding her bicycle.

Bridget and Biola are two of a kind. They are mothers of children who suffered stroke as a result of affliction with sickle cell disorder. The duo readily warn that other parents of children with sickle cell to be aware of their risk of stroke, and other complications and to follow recommended treatment, and to inquire about new treatments and trials.“Parents need to educate themselves and know exactly what to do if a stroke happens. The sooner they react, the sooner the child can get treatment to minimize risk of permanent damage,” they note. But it is obvious that the real concern here is more about the incidence of sickle cell disease much more than the complication of stroke.

According to medical experts, one of the most common underlying risk factors for childhood stroke is sickle cell disease and congenital or acquired heart disease. But it is the fact that so many children are born with sickle cell disease that elicits more worry.

Admittedly, children with sickle cell disease are believed to have a more than 200 times greater risk of suffering a stroke than children without sickle cell disease. Experts say blood cells of people who have sickle cell disease don’t get enough oxygen. The cells change shape, become longer and curved, look like the blade of a  “sickle”. Sickle cells can get stuck in blood vessels and keep blood from reaching parts of the body. This causes pain and can damage the body’s internal organs.

Children who have sickle cell disease might get more infections because their spleen is damaged by sickle cells. When sickle cells block blood flow to organs and cause pain and other problems, called a “sickle cell crisis,” or a “pain crisis.” Blocked blood vessels in the brain can cause a stroke. This can cause brain cells to die. Strokes affect about 1 in every 10 children who have sickle cell disease.
Essentially, sickle cell disease is a disaster waiting to happen.

It is an incurable genetic disorder, with a particularly daunting picture in Nigeria, which paradoxically, is the most affected country but also the least equipped to deal with the disorder. In several ways, Nigeria is not the best place to be born with sickle cell disease. The reasons are numerous – screening at birth is rarely done; few health centres specialise in the simple treatments such as the use of penicillin in children to prevent infections and taking folic acid to fight anaemia are not routinely available. Free sickle cell screenings is a pipe dream.

Here, the high prevalence of malaria worsens the problem. While carriers of sickle cell are less prone to malaria, non-carriers are more susceptible, hence the carriers have a higher likelihood of surviving than non-carriers who might get malaria. Therefore the genetic trait has a better chance of being passed on. It is a vicious cycle. But unlike carriers, those with sickle cell disease are actually more vulnerable to malaria because of their weakened health.

Impact of sickle cell on the health of the Nigerian child is heavy. The greatest tragedy of the disease is that half of children born with it are likely to die before age of five. With malaria being the leading killer of under-fives, children with sickle cell are also highly vulnerable to infections and often suffer pain in their hands and feet. Till this day, sickle cell disease is still relatively mysterious, misunderstood and misrepresented, and those with the disorder often suffer neglect and discrimination.

Sickle cell anemia – caused by the sickling of the patient’s red blood cells- is a serious disease that can require frequent hospital stays. Infants and young children readily die from the disease. As an inherited disease, sickle cell anaemia is passed on to children by their parents as part of their genetic makeup. Parents cannot give sickle cell anaemia to their children unless they both have the faulty haemoglobin in their red blood cells.

It is a blood disease that affects red blood cells. The disease itself is an inherited disorder in which red blood cells (RBCs) are abnormally shaped. Normal red blood cells are round. In people with sickle cell anemia, heamoglobin – a substance in red blood cells – becomes defective and causes the red blood cells to change shape. The faulty haemoglobin is called haemoglobin S, (HgbS) and it replaces normal haemoglobin called: haemoglobin A (HgbA). Over time, the red blood cells become rigid and shaped like crescent moons or sickles.

Unfortunately, Nigeria has the ignominy of producing one of the highest numbers of children with the disorder.  In Nigeria, at least 150,000 children are born with sickle cell anaemia each year.

Of 1,000 live births in Nigeria, 20 infants have the disease. More than 40 million Nigerians are healthy carriers of the sickle cell gene. This is by far the largest burden of the disorder anywhere in the world and most of these children will die in childhood from ignorance and lack of access to proper diagnosis and care.

A person can have a mixture of normal and faulty haemoglobin in their red blood cells without having sickle cell disease. This condition is called “sickle cell trait.” People with sickle cell trait have enough normal haemoglobin in their red blood cells to prevent the cells from sickling. They do not have sickle cell disease and usually do not develop sickle cell disease, except in unusual circumstances. However, such people can genetically pass the trait to their children.

As of today, there’s no cure. However, there are treatments that have reduced the death rate among children and the levels of pain caused by the disease. A baby with sickle cell anaemia may need to take medicine by the mouth for up to 10 years to prevent life-threatening infections. Later in life, care focuses more on managing pain.

So anyone who asks how Janet and Lolade became patients of this dreaded disorder ought to know that it obviously began with their parents. Assuming a man and woman both have sickle cell trait (AS), their child has a 25 percent chance of being born with sickle cell anaemia. If only one of partner has the sickle cell trait, the child cannot be born with sickle cell anaemia, but there is a 50 percent chance that the child will be born with sickle cell trait. If one parent has sickle cell disease (SS) and one parent has sickle cell trait (AS), there is a 50 percent chance that their children will be born with sickle cell disease. So the best prevention is to go for a simple blood test before marriage to avoid this problem.

Genes
Experts say different forms of sickle cell disease are determined by the genes inherited from the person’s parents. Someone who inherits a sickle cell gene from each parent has haemoglobin SS disease, also called sickle cell anaemia. A person can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of sickle cell disease, such as haemoglobin SC disease or haemoglobin S beta thalassemia. Someone who inherits only one sickle cell gene and a normal gene from the other parent will have the sickle cell trait, but not the disease.

Only a blood test can determine whether someone has a form of sickle cell disease or carries the sickle cell trait. Generally people with sickle cell trait don’t have sickle cell disease or exhibit any signs of the disorder, but they can pass the gene for the disease to their children. Many people don’t know even they have sickle cell trait and the signs and symptoms of sickle cell disease are different in each person. Some people have mild symptoms. Others have very severe symptoms and are often hospitalized for treatment.

This abnormality can result in painful episodes, serious infections, chronic anaemia, and damage to body organs. These complications can, however, vary from person to person depending on the type of sickle cell disease each has. Some people are relatively healthy and others are hospitalized frequently. But thanks to advancements in early diagnosis and treatment, most children born with this disorder grow up to live relatively healthy and productive lives.

Prof. Olu Akinyanju, Chairman of the Sickle Cell Foundation of Nigeria describes the population of healthy carriers as “a great problem”. He laments that, unfortunately, little attention is being giving to the disorder in the country. His words: “Over 80 per cent of children born each year with sickle cell anaemia are born in Africa. We at the Centre believed that the sickle cell centres are ideal institutions for addressing the problems of sickle cell disease as shown over 30 years ago. Since then, the average life expectancy of persons with sickle cell anaemia in America rose from 14 years in 1974 to 53 years in 2007. Even that life expectancy is greater than the life expectancy for normal people in Nigeria.”

Akinyanju worries that the number of people with sickle cell disease is not coming down. “It is not even stagnant. Rather, the population is rising, and as the population is rising, more people will carry the trait and there will be random marriages and that will be one in 15 couples who carry the trait. To determine how many people who have the trait or that have sickle cell disease, it is something that has to be done with service providers and the sickle cell community. Currently, one in four Nigerians carry the trait.”

Symptoms
Pain is the symptom most people know. In children, pain may result from blocked flow of blood and oxygen. Painful events may occur in any body organ or joint. Some patients have these painful crises less than once a year. Others may have 15 or more crises in a year. The pain can be acute (sudden), chronic (long lasting), or a mixture of the two.

Other complications  include the “hand-foot syndrome”. When the small blood vessels in hands or feet are blocked by sickle cells, pain and swelling can occur, along with fever. One or both hands and/or feet may be affected at the same time. This may be the first symptom of sickle cell anaemia in infants.

Pain may be felt in the many bones of the hands and feet. Swelling usually occurs on the back of the hands and feet and moves into the fingers and toes.  There are also eye problems.

Children with sickle cell anaemia have a hard time fighting infections. Their spleen can become damaged and unable to do its job. Infants and young children with a damaged spleen are more likely to get infections that can kill them within hours or days. There is also the problem of pneumonia to cope with. Indeed, this is the most common cause of death in young children with sickle cell anaemia.

Another common feature of children with sickle cell anemia is that they often grow more slowly and reach puberty later than other children. The slow rate of growth is caused by a shortage of red blood cells. They grow into adults that are slender or small in size.

Diagnosis
Early diagnosis is very important so that children who have the disease can get proper treatment. It is also possible to identify sickle cell anaemia before birth. This is done by getting a sample of amniotic fluid or tissue taken from the placenta. This test can be done as early as the first few months of pregnancy.

Treatment
Nowadays, effective treatments exist for the symptoms and complications of sickle cell anaemia, but in most cases there is no effective cure. Researchers believe that bone marrow transplantation may offer a cure in a small percentage of cases. They are working on developing new treatments, including gene therapy and more safe and effective bone marrow transplants.

There is plethora of problems with sickle cell disease. For one, cost of treatment is still prohibitively high. For prenatal diagnosis, an individual must cough out at least N200,000.00. “This is so because nobody is sponsoring treatment. To sustain it, it has to be paid by those who need it,” he argues. His recommendation is that genetic services should be accessible to everybody, and not just a few.

So far, under 1,000 couples are believed to have has access to these services. “More could have done more if it was more affordable and accessible. The best time to do prenatal diagnosis is between the 11th-13th weeks of pregnancy. This is so because there is need for an ultrasound scan to see whether placenta is.

Prevention
At this stage, it is essential to not the importance of intending couples to go for genotype blood test to ascertain their compatibility. Prevention has always been better than cure. For those who have already missed the preventive stage, the care of children with sickle cell disease should be seen as one that involves parents, community educators, primary care physicians, emergency room physicians, and paediatric hematologists with special expertise in sickle cell disease.

With early identification by newborn screening, initiation of penicillin and routine immunizations, education of those involved in the child’s care, and lifelong, specialized follow up care, many of the complications of sickle cell disease can be prevented or managed promptly so that the affected children can lead healthy, productive lives.


Disclaimer

Comments expressed here do not reflect the opinions of vanguard newspapers or any employee thereof.