What You Should Know about Sickle Cell

By Dr. Okechukwu Amako, MBBS (Ibadan)
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Sickle cell is a disease in which the red blood cells have a significantly reduced capacity to carry and distribute oxygen to every part of the body. This is due to a fault in the chemical compound in red blood cells (haemoglobin) responsible for carrying and delivering oxygen to every cell in the body. This fault in haemoglobin is inheritable (results from an abnormality in the genes that produce this haemoglobin), so parents with the fault pass it to their children.

However, it is only when the two copies of the gene that produce haemoglobin have this abnormality that sickle cell disease occurs. If only a copy of the gene (HbS) is affected the person is said to have a sickle cell trait (HbAS); if the two copies are affected, the person has a sickle cell disease (HbSS). If a man and a woman who both have a sickle cell trait (HbAS) get married, one out of every 4 children they have will have sickle cell disease (HbSS). This is in theory; in real life, all 4 children could have sickle cell disease. Hence, it is important for everyone to know their genotype before considering getting into a relationship that may likely lead to marriage to avoid facing the many challenges of raising a sickle cell child or children.

For already married couples whose genotype is AS, it is important they test the genotype of every child they have at birth. This will help them prepare on how to raise any child with sickle cell disease in the best possible way.

The first physical manifestation of sickle cell disease occurs as early as 6 months old, though the child may not show any signs of sickle cell disease until around 2 or 3 years of age. This first manifestation comes in the form of a painful swelling of the back of both hands and feet which can stay on for several days.

As the child grows, the most common physical manifestation is a pain crisis that can affect every part of the body, especially the bones, joints and abdomen. This pain crisis usually starts suddenly, lasting for several hours or days, during which the affected person is in very severe discomfort. It results from the blockage of tiny blood vessels in different parts of the body by abnormally shaped red blood cells (sickled cells). There are situations that trigger or worsen this pain crisis and they include:

A. Conditions in which there is reduced air (oxygen) to breathe in.

A. Exposure to cold (being under the rain) or being in a hot environment

B. Loss of body water (dehydration) which can result from vomiting, diarrhoea, warm weather

C. Emotional stress (anger, worry and so on)

D. Infections

People with sickle cell disease are prone to many other dangerous health situations aside this pain crisis. These include:

1. Life-threatening anaemia (shortage of blood) due to pooling of blood into an organ located near the stomach (left upper part of the tummy) called the spleen. This is very common in less than 3 years old children with sickle cell disease. The anaemia resulting from the pooling of blood into the spleen causes shock and can lead to death if emergency treatment is not given to the child.

2. Temporary stoppage of red blood cell production by the bone marrow triggered by infection with a particular virus

3. Massive destruction of red blood cells leading to anaemia and jaundice.

People with sickle cell disease are highly predisposed to infections such as pneumonia, meningitis, bone infection (osteomyelitis). Also, these people are likely to develop complications like

-stroke
-heart failure
-urinary tract infection
-kidney disease that can lead to kidney failure
-painful, persistent, purposeless erection of the penis (known as priapism) which can lead to impotence

Taking care of children or adults with sickle cell disease requires collaboration between their families and the healthcare givers, especially the specialist doctors, haematologists for adults and paediatric haematologists for children.

In addition, it is very important for sickle cell patients to constantly, on the recommended daily basis, take their medications (folic acid, antibiotics, pain medications, medications for prevention against malaria and so on) and always keep to their doctor's appointment. Babies with sickle cell disease should receive all the recommended immunisations plus vaccines specifically made for sickle cell disease. Any sign of infection should be reported to the doctor for immediate treatment no matter how insignificant. To reduce the risk of painful crisis, people with sickle cell disease should:

-avoid exposure to cold
-take measures (use of insecticide-treated nets) to prevent mosquito bite because of how serious malaria is in sickle cell disease
-prevent situations that can lead to emotional stress.

Sickle cell disease can be cured with stem cell (bone marrow) transplantation using a healthy donor's bone marrow. However, the procedure is very complex and risky and the patient must meet many criteria one of which is he or she must be less than 16 years old and must have a compatible full sibling (brother or sister) as the bone marrow donor. Moreover, stem cell transplantation is not commonly done in this part of the world.

Happy world sickle cell day

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Published Monday, June 19th 2017

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