By Doris Obinna
There is nothing as painful as living with a disease that can cause sudden episodes of extreme pain, or having a child or a relative that often goes through recurrent bouts of pains.
What do you do when the only thing that helps relieve such pains are powerful, addictive painkillers? How does a family manage the needs of a child with such a chronic ailment? The challenges of living with sickle cell disease are great but, with diligent care, it can be managed.
Each year, on June 19, countries celebrate World Sickle Cell Day. It was initially presented as a resolution by the United Nations in 2008. The goal of this day is to recognise sickle cell anaemia as a public health problem and promote education about this genetic condition.
It is also to increase global awareness, knowledge and understanding of sickle cell disease and the sufferings faced by the affected patients.
This year, the national awareness campaign theme is “Shine the Light,” signifying the nationwide gatherings should light the buildings in red, in an attempt to find a universal cure for disease.
The World Health Organisation (WHO) says sickle cell disease (SCD) is the most commonly inherited blood disorder, characterised by sickle-shaped red blood cells that may clump together, impeding the supply of blood and oxygen to the body. Common symptoms include pain crises (serious pain), infection, anaemia and organ damage to the liver, lungs, heart, kidney and spleen.
“Commemorating sickle cell day helps to promote global awareness of sickle cell disease and emphasise resources concerning emergency management of the disease. The disease affects 300,000 to 400,000 babies annually throughout the world. Treatment revolves around prevention and management of its complications.”
Lagos State Commissioner for Health, Prof. Akin Abayomi, said the theme “Shining the Light on Sickle Cell” is an opportunity to create awareness on SCD: “A child gets SCD when he or she receives two sickle cell genes, one from each parent. WHO estimates that sickle cell disease affects nearly 100 million people worldwide and over 300,000 children are born every year with the condition.
“Sickle cell disorder is a hereditary blood disorder in which the red blood cells (RBCs), which are ideally spherical, become sickle-shaped, hence preventing the body from transporting the needed quantity of oxygen to the body and clogging blood vessels, causing severe pain.
“Also, the RBCs die early, leading to a shortage of blood; tissues that do not receive a normal blood flow eventually become damaged and this is what leads to the complications of the sickle cell disease.
“Play your part by checking your genotype! Visit the closest primary health centre to you to know your genotype.”
The Centre for Disease Control and Prevention (CDC) described the disease as a group of inherited red blood cell disorders: “Red blood cells contain haemoglobin, a protein that carries oxygen. Healthy red blood cells are round and they move through small blood vessels to carry oxygen to all parts of the body.
“In someone who has SCD, the haemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a ‘sickle.’ The sickle cells die early, which causes a constant shortage of red blood cells.
“Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious complications (health problems) such as infection, acute chest syndrome and stroke.”
Causes
Public health expert, Dr Sunday Olalekan, says: “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 that you don’t have the disease but you are a ‘carrier’ and could pass the gene on to your children.
“Both your parents need to pass the abnormal haemoglobin gene on to you in order for you to develop the disease. If both your parents carry the defective gene, you have a one-in-four hance of inheriting the disease and becoming sick with it.
“If a child is born with one defective haemoglobin-beta gene, he may become a carrier of the disease. Carriers usually don’t develop SCA symptoms. But they can pass the disease on to future children, if their partner also carries the sickle cell trait.
“Red blood cells contain a molecule called haemoglobin, which carries oxygen throughout the body. In a healthy person, haemoglobin is smooth, round and flexible. That allows red blood cells to glide easily through your bloodstream.
“But if you have SCA, the haemoglobin’s shape is abnormal. It forms rods that clump together. That causes red blood cells to become rigid and curved. The odd-shaped cells block blood flow. It’s dangerous and can cause extreme pain, anaemia and other symptoms.”
How it is inherited
“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 of his parents. This usually happens when both parents are ‘carriers’ of the faulty gene or have the sickle cell trait.”
Olalekan stressed that 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 a 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.”
Diagnosis, signs and symptoms
Olalekan said: “A simple blood test can show whether a person has sickle cell anaemia. Most states test for sickle cell disease before infants go home from the hospital.
“Signs and symptoms of sickle cell anaemia 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 sickled 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).
“The signs and symptoms of sickle cell anaemia are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anaemia.
“Anaemia can cause shortness of breath, fatigue and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice.
“Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen and brain.
“A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). This occurs in about one-third of adults with sickle cell disease.”
Prevention and treatment
“Management of SCD is focused on preventing and treating pain episodes and other complications. Prevention strategies include lifestyle behaviours as well as medical screening and interventions to prevent SCD complications,” says the CDC.
“There are simple steps that people with SCD can take to help prevent and reduce the occurrence of pain crises. These include drinking plenty of water; trying not to get too hot or too cold; trying to avoid places or situations that cause exposure to high altitudes (for example, flying, mountain climbing, or cities with a high altitude).
“Also, try to avoid places or situations with exposure to low oxygen levels (for example, mountain climbing or exercising extremely hard, such as in military boot camp or when training for an athletic competition).”