Sickle cell varies from person to person

Sickle cell anaemia or the trait for the inherited disease, which can cause pain in babies as young as three months old, shows up in about 4.5 per cent of newborns in the Cayman Islands every year.

According to Health Services Authority figures, 28 people – both Caymanian and non-Caymanian – are known to suffer from sickle cell anaemia, which is passed on from parent to child.

For most people, the disease cannot be cured, and can vary in severity from patient to patient, explained Joy Merren, genetics coordinator at Public Health.

‘There are various types of sickle cell disease, with some more serious than others, but you need to look at each patient individually. Even some supposedly mild cases can sometimes have more severe symptoms,’ she said.

Sickle cell anaemia is marked by the disfigurement of red blood cells, which carry oxygen throughout the body.

Instead of being round, flat and flexible, affected red blood cells will be rigid, sticky and shaped like sickles or crescents.

These misshapen cells not only don’t live as long as normal ones (10 to 20 days compared with three to four months), but they can also get stuck in the small blood vessels which can slow or block blood flow and, therefore, oxygen to parts of the body.

Especially susceptible to this blocked flow are the bones, lungs, spleen, skin and brain.

Inherited trait

Sickle cell anaemia is inherited as a recessive trait. If both parents have sickle cell anaemia, the child will have the disease. If both parents have the sickle cell trait, there is a one in four chance the child will inherit sickle cell anaemia.

If one parent has the trait and one has the disease, there is a one in two chance the child will inherit sickle cell anaemia.

A carrier of the trait will not develop the disease but can suffer from certain symptoms associated with sickle cell anaemia under specific conditions.

While the disease is often associated with African ancestry, sickle cell anaemia is also found in people of Spanish, Mediterranean, Middle Eastern and Indian origin.

Among the most common symptoms of the disease are episodes of pain, anaemia, jaundice, frequent infections, stunted growth, leg ulcers and vision problems. In addition, pregnant women suffering from this disease are more prone to miscarriages, according to Mrs. Merren.

‘Sickle cell disease can affect every organ in your body,’ she added.

Patients must get checked regularly by a doctor, who will look at various indicators associated with the disease.

As part of a complete examination, the doctor must check for an enlarged spleen or liver, look at the haemoglobin level, examine the kidneys and test the urine for any blood, according to Dr. Courtney Cummings, internal medicine specialist and acting medical director of the HSA.

‘There are serious acute issues and serious chronic issues. The most serious acute crises are strokes caused by blockage of cerebral vessels; pooling of the blood in the liver, called sequestration; and overwhelming infections,’ Mr. Cummings said.

One of most serious chronic complications is renal failure, he added.

Treatment options

Several treatment options are available, but only one offers a potential cure.

Both adults and children can take folic acid, a vitamin B that helps to increase the red blood cell count, Mr. Cummings explained.

From age four months to four years old, children are given a regularly scheduled penicillin prophylaxis to prevent infection.

Patients who suffer from severe recurring crises may be given hydroxyurea to increases foetal haemoglobin, which helps prevent sickling from occurring, Mr. Cummings explained.

A bone marrow transplant is the only option for a cure at present. If healthy marrow cells are donated from someone who matches the patient, these can be put into the bone marrow which can then produce normal cells, Mr. Cummings said.

The procedure, which is usually performed on children, is very risky, however, and is only indicated in patients who suffer a severe, life-threatening form of the disease. Almost all of the patients in the Cayman Islands do not fit the criteria to justify a transplant, according to Mrs. Merren.

Symptoms of sickle cell can appear in babies as young as three months old. Hand-foot syndrome is often the first sign of the disease and causes painful swelling of the hands and feet. This symptom can affect children up to 6 years old.

The greatest risk for babies and young children is acute splenic sequestration. This attack occurs when the spleen is damaged by the sickle cells, causing the organ to enlarge and the child’s blood to pool.

When this happens, the child must be immediately brought to the hospital for a possible blood transfusion. A repeat of the episode may necessitate removal of the spleen. If undetected, the child could die.

To avoid this emergency situation, parents can be taught to feel if the spleen is becoming enlarged and bring the child to the hospital right away.

This technique, first taught in Jamaica, has decreased the death rate from splenic sequestration by 90 per cent in that country, according to the Sickle Cell Trust of Jamaica. Paediatricians at HSA teach this method to parents in the Cayman Islands.

Crisis episodes

A particularly debilitating symptom of the disease is known as painful crisis, which is thought to occur when the sickle cells, which are easily deformed, block the smaller blood vessels, Mr. Cummings explained.

During an attack, pain can develop close to the joints, in the back, the chest, the long bones and the abdomen. Recovery usually takes from five to 10 days, though it can be followed by aches in the bones for several weeks.

These episodes usually begin when a patient is anywhere from three years old to 10 years old, and continue to about age 30, though it can affect older people.

Noting that the disease can manifest itself differently in each patient, Mrs. Merren added: ‘You read the book and then you look at the person.’

She holds a sickle cell anaemia support group meeting about three times a year so people can share experiences and learn more about the condition and management of the disease.

More Info

For more information about sickle cell anaemia, contact Joy Merren at 244-2630.

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