By Rebecca Kalaowubu

There is nothing as painful as living with a disease whose end is not in sight, a disease of pain and death. This is the lot of people living with sickle cell anaemia.

Sickle cell anaemia is the most common inherited blood disorder. This means that it is passed down through families. It is not something you catch or develop later in life.

Dr. Kalu Obinna of Graceland Medical Centre, Iyana-Iba, Lagos said, however, that sickle cell anaemia is not a decree of death and doesn’t make one a handicap or disabled.

According to him, it is just a condition, explaining that one living with sickle cell anaemia could fulfill one’s destiny, do anything the normal person does and even have kids.

He, however, advised that people living with sickle cell anaemia should be given enough care and support as well as get good treatments regularly.

Sickle cell anaemia is a serious, hereditary form of anaemia that arises as a result of the sickle cell disease, where the mutated form of hemoglobin deforms the red blood cells into a crescent or sickle shape. It is called so because, the red blood cells look like a sickle, which is a C-shaped farm tool. Normally, the red blood cell is smooth, round, and flexible, that allows it to glide easily through the bloodstream. But in the case of those with sickle cells, it is not so. It can become rigid and shaped like a sickle because the hemoglobin inside clumps together and becomes stuck in blood vessels, thereby, hindering the smooth flow of oxygen in the body. The odd-shaped cells block blood flow. It’s dangerous, and can cause extreme pain and anaemia and other symptoms. It can also harm organs, muscles, and bones.

Having sickle cell disease means a lifelong health battle, within which pain, infections, anaemia, and stroke are manifest. However, many people are able to have good quality of life by learning to manage the disease.

Causes sickle cell anaemia

Sickle cell disease is passed from parents to children. To get sickle cell disease, a child has to inherit two sickle cell genes, one from each parent.

When a child inherits the gene from just one parent, that child has ‘sickle cell trait.’ Having this trait means you don’t have the disease but you are a ‘carrier’ and could pass the gene on to your children.

Both parents need to pass the abnormal hemoglobin gene on to their children for them to develop the disease. If both parents carry the defective gene, the children have 1 in 4 chance of inheriting the disease and becoming sick with it.

If a child is born with one defective hemoglobin-beta gene, he may become a carrier of the disease. Carriers usually don’t develop SCA symptoms. But, they could pass the disease on to future children if their partner also carries the sickle cell trait.

Genes come in pairs. A child inherits one set from his mother, and another set from his father. To be born with sickle cell disease means that a child inherited a copy of the faulty sickle cell gene from both parents. This usually happens when both parents are ‘carriers’ of the faulty gene, or have the sickle cell trait.

Sickle cell carriers do not have sickle cell disease themselves, but there is a chance they could have a child with the condition if their partner is also a carrier. If both parents are sickle cell carriers, there is: 25 per cent chance that each child they have will not inherit any faulty genes and would not have sickle cell disease or be able to pass it on; 50 per cent chance that each child they have will just inherit a copy of the faulty gene from one parent and be a carrier, and 25 per cent chance that each child they have will inherit copies of the faulty gene from both parents and be born with sickle cell disease. 

Signs and symptoms

Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristics of this disorder include a low number of red blood cells (anaemia), repeated infections, and recurring episodes of pain. The severity of symptoms varies from person-to-person. Some people have mild symptoms, while others are frequently hospitalised for more serious complications.

Painful events (sickle cell crises) are the most common symptom of sickle cell disease. They are periods of pain that happen when sickle cells get stuck in blood vessels and block the blood flow. These events usually cause pains in the hands, feet, belly, back, or chest.

Anaemia makes you feel weak and tired. People with sickle cell anaemia may look pale or washed out. Their skin and the whites of their eyes may have a yellowish look (jaundice). Anaemia can cause shortness of breath, fatigue, and delayed growth and development in children.

A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension).

Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.

The sickle cell crisis

People living with sickle cell usually experience crisis, whose causes are numerous. However, lifestyle or some activities could trigger crisis. They include alcohol, smoking, lack of or too much  exercise. When people living with sickle cell exercise, they should drink lots of fluids.

To avoid sickle cell crisis, drink at least eight 12-ounce glasses of water a day during warm weather, reduce or avoid stress; treat any infection as soon as it occur; wear warm clothes outside in cold weather and inside in air-conditioned rooms during hot weather; do not swim in cold water; if you have another medical condition, like diabetes, get treatment and control the condition; if you are pregnant or plan to become pregnant, get early prenatal care; only travel in commercial airplanes. If you have to travel in an unpressurized aircraft, talk to your doctor about extra precautions.

What to do about pain

Since pain is the main problem, some over-the-counter medicines might help relieve it. A heating pad, hot bath, rest or massage might help. Physical therapy to relax and strengthen your muscles and joints might lessen your pain.

Individual counseling, self-hypnosis and activities to keep you from thinking about your pain (such as watching television or talking on the telephone) might also help. It’s important for you to have a positive attitude, create a supportive environment, and develop coping skills to help you deal with your disease. Strong family relationships and close personal friends can be helpful. A support group might help you cope with your disease.

How to prevent sickle cell anaemia

The best way to prevent his disease is to avoid the marriage between carriers. Simply put, a man with AS genotype and a woman with AS genotype should not get married, as their children would have SS genotype and therefore become sickle cell patients.

However, couples that know both parents are carriers of the disease, it’s possible to use a modern IVF technique that eliminate the chance of children having the disease. During a normal IVF process, an embryo biopsy can be performed before the embryo is transferred to the mother’s uterus. The couple may choose to only implant embryos unaffected by the disease, saving their children a painful and shortened life.

According to an expert, “another way couples can choose to prevent the disease is to conceive in the regular way, and then undergo chorionic villus sampling during the pregnancy. This is when a small biopsy is taken from the placenta, around nine weeks. The cells are then checked for the disease and a diagnosis is available within 2 to 3 days. Parents may then consider elective pregnancy termination if the foetus is found to be affected by sickle-cell anaemia. This method can be heart-breaking for the couple, and has also been challenged based on morality.

“Another option, which can be considered is using a sperm or egg donor without the sickle-cell trait. This may be a viable option for patents, as it eliminates the risk of the child having sickle-cell anaemia.”

Treatment

The only known cure for sickle cell disease is bone marrow or stem cell transplant. Bone marrow is the soft tissue inside the bones that makes blood cells.