Sickle cell disease is an inherited blood disorder characterised by defective haemoglobin (this is a protein in red blood cells that carries oxygen to the tissues of the body.) It is unfortunate for a child to be born with the disease. Although it has no cure, doctors say that there are ways to relieve the pain.
Dr Stephenson Musiime, the chief consultant paediatrician at Glamerc Polyclinic, Remera, says that sickle cell disease is a genetic disorder; whereby the body forms abnormal haemoglobin. There are normally two types of haemoglobin, the normal haemoglobin for small babies called foetal haemoglobin, and normal adult haemoglobin, whereby cells are disc shaped. With sickle cell disease (SCD), the haemoglobin changes into sickle shape.
According to Dr Raymond Awazi, a paediatrician at Heritage Medical Park, Kigali, sickle cell disease is an inherited disorder of the haemoglobin in blood. An autosomal recessive disease linked to the presence of abnormal haemoglobin, which polymerise if it’s not oxygenated. Then the red cell is distorted, stiffened and weakened.
He adds that sickle cell anaemia is suggested when the abnormal sickle-shaped cells in the blood are identified under a microscope. However, the disease is confirmed by quantifying the types of haemoglobins present using a haemoglobin electrophoresis.
Musiime notes that the sickle-shaped cells are not flexible and cannot change shape easily. Many of them breakdown during movement in blood vessels, the sickle cells lifespan is about 10 to 20 days only, instead of the normal 90 to 120 days. When they break down they release Bilirubin which makes the eyes and skin look yellow. This reduces blood in the body (leading to anaemia) and makes the individual to always feel tired.
He further says that the sickle-shaped cells may block small blood vessels, thus cutting off blood flow to tissues, resulting in a lack of oxygen to these areas. The lack of oxygen causes severe pain, known as pain crises. Any part of the body can be affected.
Awazi says, “Before birth, the diagnosis of sickle cell anaemia is possible using amniocentesis or chorionic villus sampling. The sample obtained is then tested for DNA analysis of the foetal cells.”
These occur after five months of age because small babies still have foetal haemoglobin, which includes painful swelling of the hands and feet, general weakness from anaemia and yellowish colouration of the skin and eyes (jaundice), he says.
SIGNS AND SYMPTOMS
Musiime says that the signs and symptoms of SCD are due to the complications of the disease, and vary from one individual to another. All body organs, including the brain, (stroke) can be affected. Some of the signs and symptoms include; severe pain from tissue hypoxia or lack of oxygen, anaemia from breakdown of blood cells, organ damage and infections. If the anaemia is severe, it can lead to heart failure, the bone marrow may also function poorly.
Awazi says, “It’s very important that affected individuals and their family members have an optimal understanding of the illness and that communication with the doctors be maintained.”
He adds that the major features and symptoms include; pain crises, fatigue, bacterial infection, lung and heart injury, leg ulcers ,splenic sequestration, aseptic necrosis and bone infarcts which leads to death of portion of bone and eye damage.
WHEN TO SEE THE DOCTOR
Musiime urges that all sicklers (an individual with sickle-cell trait or sickle cell anaemia) should have regular check-ups and whenever they get any illness. If any of the above symptoms is noticed, they should be taken to hospital immediately.
He explains that the only cure for SCD is bone marrow transplant, which has many complications and very expensive in low resource settings. However, there are treatments that can alleviate symptoms, reduce complications, and improve patient quality of life, like immunisations and antibiotics are applicable to prevent infections, pain killers for pain, hydroxyurea (this increases foetal haemoglobin in the blood and reduces the risks of SCD complications,) and blood transfusions for severe anaemia and stroke.
Awazi stresses that if not treated, the patient dies from complications. In general, treatment is directed at the management and prevention of the acute manifestations, as well as therapies directed toward blocking the red blood cells from stacking together. There is no single remedy to reverse the anaemia.