The World Health Organisation (WHO) has dedicated the 19 June every year as the World Sickle Cell day in order to raise awareness of the disease worldwide.

In line with that Ntiamoah Foundation an (NGO), in health education charity on its 10th anniversary presents the following feature.

Many people may have heard the terms sickle cell, sickle cell disease, sickle cell anaemia, sickle cell trait and related words/expressions without knowing exactly what they mean.

Blood cells.

There are three main types of cells in the blood: Red blood cells, White blood cells and platelets.

Red blood cells contain a red substance called haemoglobin.  Haemoglobin carries oxygen to all parts of the body to ensure survival. The normal red blood cell with normal haemoglobin, is oval shaped. It is called Haemoglobin A, and lives in the blood for about 120 days.

Sickle Cell.

There are different types of haemoglobin; normal and abnormal. Sickle haemoglobin is an abnormal one, and referred to as S.  Sickle haemoglobin changes the shape of the red cell, under conditions where there is not enough oxygen. The red cell becomes like a half moon or a sickle –the farming tool; hence the term sickle cell.

Sickle cell is rigid and unable to adapt to pass through all the blood vessels in the body. It also has a shortened life-span of about 30 days only. Sickle cells can clump together and block the tiny blood vessels, preventing oxygen from getting to appropriate parts of the body.

Other types of abnormal haemoglobin include Haemoglobin C and Thalassaemia haemoglobin.

Sickle Cell Disease?

Sickle cell is important in medical terms when it combines with itself or with other abnormal haemoglobins, as sickle cell disease, or with normal haemoglobin as sickle cell trait. Sickle cell disease includes Sickle cell anaemia (Hb SS), Haemoglobin SC disease (Hb SC) and Sickle Beta-thalassaemia. Hb AS is a carrier state and not a disease. All these are inherited from parents.

Inheritance

Every quality in the body is inherited from one’s parents. For example skin colour, type of hair, haemoglobin and more. The qualities are carried in genes; each quality being represented by a pair of genes. During mating each parent passes on half of the pair of genes, and the two join together. Thus the child also has two genes for the particular quality as the parents. Therefore, the child has some qualities from each parent.

Take haemoglobin. The normal haemoglobin A, will be AA in the person. The person with sickle cell will have SS. If these two people, one a man and the other a woman  have a child, he/she  would inherit ‘A’ gene from one parent and ‘S’ from the other. The child will end up with AS (the trait).

If a couple, each AS, have a child, the likely combinations in the child would be: AS, AS, AA, and SS, in each pregnancy. One of these ‘children’ will be born, by chance like in a raffle; two if twins.

The SS is sickle cell anaemia, the most serious form of cell disease. The chance of that happening is one out of four for every pregnancy. Therefore, the term one in four of children of a couple each with sickle cell trait could be born with sickle cell anaemia does not mean that If such a couple had only three children, then they would avoid producing the child with SS.

Where does Sickle Cell occur?

Sickle cell is most common in Africa, South America, Central America, The Caribbean Islands, parts of The Mediterranean, India and Saudi Arabia. It is now s a world -wide problem because of   intermarriages with widespread migration.

In countries such as Cameroon, Republic of Congo, Gabon, Ghana and Nigeria, the prevalence is between 20 – 30 percent

Sickle Cell Trait

People with sickle cell trait do not have a disease. Ordinarily they live normal life spans without even knowing that they carry it until they have the special sickle cell test. They can however, experience some problems under, conditions with extremely low oxygen levels. These include deep sea diving and strenuous exercises which should be avoided by those with sickle cell trait. General anaesthetic can very rarely be hazardous in Traits. Therefore, people should be tested before surgery.

The trait and the kidneys

Those with the Trait may pass more urine than normal and children can wet their bed till a late age. They can also pass blood in their urine.

There can also be bleeding into the eye.

Sickle cell trait is very important because it is how the gene has survived and been passed on through generations. It can thus have serious implications for marriage and childbearing. It is therefore important TO KNOW YOUR SICKLE STATUS before having children, in order to prevent the disease.

Sickle cell anaemia (ss disease) symptoms 

Sickle cell anaemia can cause many different symptoms. However, not everyone will experience all the symptoms. Also, the severity varies, with some having very mild while others experience severe and frequent symptoms. Most sufferers have moderate symptoms. Symptoms are not present all the time.

Onset 

Symptoms of sickle cell anaemia do not begin till after 3 -6months of age. The first symptom in babies is very painful swelling of the hands and feet.

Pain

Pain is a very common symptom in sickle cell disease and can be anywhere. It usually occurs in bones and joints with abdominal and chest pains also common. Pain can be sudden and vary from mild to severe. It can also last from a few minutes to several weeks. Episodes of pain are called crises.

Anaemia

Broadly, this means lack of haemoglobin in the blood. It can be very severe, sometimes sudden and life-threatening.

 Infections

Severe infections, especially from certain types of bacteria – those that cause, meningitis, blood poisoning, pneumonia and bone infections are common in sickle cell disease.

Jaundice:

Yellow colouration of the whites of the eyes and the skin.  It can be intermittent but some children with the disease have yellow eyes most of the time.

Leg Ulcer

This is can occur in anaemia even without injury.

Diagnosing sickle cell

This by special blood tests which show the type of sickle cell. Tests that give results like Sickling positive or Sickling negative are useless.

Management of cell disease

At present, there is no readily available cure for sickle cell disease. Management is mainly that ill-effects of the disease and avoiding factors which can trigger crisis.

• Ensure that you drink plenty of fluids especially, in order to avoid being dehydrated.

• Avoid being too cold or too hot especially, wrapping up well in cold weather.

• Treating infection early.

• Take all recommended immunisations.

For prevention of some deadly infections, daily doses of antibiotic (Penicillin) are prescribed.

Avoid smoking and drinking alcohol.

Keep fit by taking regular tolerable exercises.

Pain management

Paracetamol or ibuprofen taken appropriately are very effective. Stronger ones will be prescribed by the doctors.

Neonatal Screening

Diagnosing sickle cell disease early in life and starting management, gives good outcomes for life. Therefore, neonatal screening is highly recommended.

Prevention of sickle cell disease.

The only way to do this is to avoid marrying someone with the sickle gene if you have the same.

Counselling

Properly trained counsellors are very important in the management of sickle cell disease.

Lastly, children with sickle cell disease should be encouraged to develop to their own potential.

The writer is a paediatrician and a child health specialist, and the overseas medical representative of Ntiamoah Foundation.