I will not be surprised if this is the first time you have heard of sickle cell anaemia. Most people have no idea what it is, possibly because it is a ‘silent’ condition that typically affects people of African heritage. It could also be because the black community tend to hide their ailments due to the fear of stigma. This ultimately results in a lack of awareness of the condition. Secrecy within the black community and its negative impacts deserves a blog post of its own, but for now, it is worth noting that sickle cell anaemia also affects people in some Mediterranean, Middle Eastern and Asian countries.
What is Sickle Cell Anaemia
Sickle cell anaemia is a genetic disorder that affects the red blood cells. Your red blood cells transport oxygen from your lungs to all of the other cells and tissues in your body. Your red blood cells can do this because they contain a special protein called haemoglobin. As a baby, you have fetal haemoglobin, but by six months old, the levels of fetal haemoglobin decline and your body begins to use adult haemoglobin.
Normal, adult haemoglobin consists of four protein chains attached to a molecule of iron. Two of the protein chains are called alpha proteins, and the other two are beta proteins. This normal haemoglobin allows red blood cells to maintain their flat, disc shape both when they collect oxygen from the lungs and after they distribute it to the other cells in your body.
In people with sickle cell anaemia, however, there is a mutation in the beta proteins of the haemoglobin. This mutation causes the red blood cells to form a crescent or sickle shape once they lose oxygen. Sickle red blood cells are very sticky and rigid and can accumulate in tiny blood vessels within organs. The accumulation causes a blockage that prevents blood from flowing properly, which causes severe pain – the hallmark of sickle cell anaemia. Also, while healthy red blood cells have a life span of 100—120 days, sickle red cells have a life span of only 8—25 days.
Over time, repeated sickling in organs can cause severe damage, disabilities or even death depending on where it occurs. People with sickle cell anaemia, therefore, have a high risk of multi-organ damage, stroke and reduced lifespan. However, with early detection and proper management, the prognosis for those with sickle cell anaemia in developed countries is much better. Unfortunately, in low resource countries, especially those in sub-Saharan Africa, sickle cell anaemia still has a bleak prognosis.
Who gets sickle cell anaemia
As sickle cell anaemia is a genetic condition, a person typically inherits it from parents who carry the sickle haemoglobin gene. Their children have a 25% chance of getting the condition if each of their parents has one defective gene. However, if one parent carries one sickle gene, and the other has two sickle genes, the risk of their children getting the condition increases to 75%.
Sub-Saharan Africa has the highest concentration of people with sickle cell anaemia, but the condition is also present in parts of the Mediterranean, the Middle East and India. In general, sickle cell anaemia is prevalent in places with a high burden of malaria. Those who have a normal haemoglobin gene and a sickle gene (sickle cell trait) are protected from malaria and thus have a survival advantage. This is the main reason why the sickle gene persists in black communities. As biracial relationships have become more common, the defective gene has spread into the Caucasian population. Sickle cell trait is present in southern Caucasians, but full-blown sickle cell anaemia is still quite rare.
What are the symptoms
Sickle cell shows no symptoms in the first one to two months of life. This is because children have high levels of fetal haemoglobin, which stops red blood cells from sickling. Between three to six months when fetal haemoglobin levels decline, dactylitis (swelling in the hands and feet), and problems with the spleen begins. The second six months of the first year is the most vulnerable for children as they are most susceptible to infections that cause intense sickling in the spleen. This increases the risk of sepsis and severe chest infections. These symptoms continue to be the main issues of concern up until age five.
After age five dactylitis becomes rare and bone pain shifts to the ribs and sternum. During adolescence, children endure bedwetting, leg ulcers (mostly in tropical regions), increasing bone pain, delayed growth and sexual development. Male children may also experience painful erections (priapism).
After ages 25-30, the frequency of bone pain reduces and patients may have improved qualities of life. After age 40, sicklers may experience kidney disease as their haemoglobin levels decline. This can lead to heart disease and other problems.
Across all ages, yellowing of the skin, eyes and mouth (jaundice) can occur. The yellowing occurs because of the release of a yellow substance, bilirubin, that red blood cells produce when they die. As red blood cells in patients with sickle cell die very quickly, bilirubin accumulates in the blood and causes jaundice.
Symptoms that need emergency treatment at a hospital
- Sudden pain in the chest, stomach, arms or legs
- Symptoms of an enlarged spleen
- Difficulty breathing
- Sudden loss of vision
- Symptoms of anaemia (paleness, fatigue)
How to prevent painful episodes
Sickle cell anaemia is a lifelong condition that requires management. The management strategies aim to prevent or minimise the frequency of pain crisis episodes and include:
- Avoiding high altitudes
- Sudden changes in temperature
- Swimming in cold water
- Preventing infections by staying up to date with vaccinations, avoiding ill people and keeping hands clean at all times
- Eating a healthy diet
- Drinking enough fluids
- Getting enough sleep
Is a cure available
Stem cell transplantation is the only cure for people with sickle cell anaemia. However, it is a risky procedure that requires a matched sibling donor. It can be difficult to find a matched donor, but technology is improving to allow the use of partially-matched donors.
Treatment and management are currently limited to blood transfusions, hydroxyurea (increases the amount of fetal haemoglobin) and medication to relieve pain.
Sickle cell anaemia is a life-long condition that may cause severe pain and poor quality of life, but with proper management, affected individuals can live a long, happy life.