Sickle cell anaemia: a genetic blood disorder
DHA stresses the importance of complying with taking medication to avoid complications
Sickle cell anaemia is an inherited blood disorder. It causes an insufficient amount of healthy red blood cells, which are the cells that circulate oxygen around the body.
Normally, red blood cells are flexible and round-shaped but for people with sickle cell anaemia, the cells become shaped like sickles or crescent moons. The irregular shape means that the cells can get stuck in small blood vessels, which can block the flow of blood and oxygen to parts of the body.
Dr Amna Al Mehairi, Consultant Haematologist at Dubai Hospital, DHA, says that for a child to inherit the blood disorder, both parents need to carry the disorder. “For a child to be affected with sickle cell anaemia, both their mother and father must pass on the defective gene,” she says.
“Usually, if we know that the parents are carriers of the [sickle cell anaemia] gene, we check the children. If they present symptoms such as anaemia and body pain, we take a multidisciplinary approach, where patients see doctors, haematologists, physiotherapists and sometimes a psychologist.”
Symptoms
The signs and symptoms of sickle cell anaemia vary on an individual patient basis and also develop and change over time. In people without the disorder, red blood cells usually live for around 120 days before they need to be replaced but with sickle cells, they usually die in 10 to 20 days, leaving the body with a deficit of red blood cells.
When this happens, there is a lack of oxygen circulating in the body, which can lead to a feeling of fatigue in the patient.
For a child to be affected with sickle cell anaemia, both their mother and father must pass on the defective gene.
Another symptom patients can suffer from is pain. “We also educate patients on pain management as these patients get frequent pain and if they aren’t properly managed, they can develop disease-related complications when they grow up,” says Dr Al Mehairi.
The pain occurs when the sickle-shaped red blood cells block blood flow through body, which can affect the chest, abdomen, joints and also the bones.
“One of the acute complications is severe pain that requires hospital admission. Sometimes patients can develop blood sequestration, where there is bleeding in the liver and spleen that causes severe abdominal pain and might require surgery.”
Other side effects from sickle cell anaemia can include painful swelling of the hands and feet, where the sickle-shaped cells block the flow of blood to them. People with the disorder can also be more susceptible to infections, as sickle cells can damage the spleen. In such cases, children may be prescribed antibiotics to reduce the risk of them contracting potentially life-threatening infections such as pneumonia. In some cases, children can also exhibit delayed growth, as the deficit of red blood cells means that they don’t receive the oxygen and nutrients they need for growth.
Bone marrow transplants
The only way to cure sickle cell disease is to carry out a bone marrow transplant. A bone marrow transplant replaces the cells in your body that produce red blood cells, which are called haematopoietic stem cells. Consequently, the body stops producing the sickle-shaped red blood cells that cause the disease. For the procedure, the doctor takes the healthy stem cells from the stem cells of a donor and injects them into the body of the patient. The cells then travel to the patient’s bone marrow and they start creating healthy red blood cells.
While the process sounds simple, a bone marrow transplant is a complex procedure that requires several weeks in hospital and a number of months of follow-up care. The treatment also involves chemotherapy and in some cases radiation therapy, as the cells that produce the abnormal blood cells need to be destroyed, which why it is rarely the first avenue of treatment. “Bone marrow transplants are not available in the UAE and patients are sent abroad, but is not common,” says Dr Al Mehairi.
Avoiding complications
“In many cases, we prescribe certain drugs that act on the bone marrow to produce less of the sickle cells,” explains Dr Al Mehairi.
“The side effects are very low. It might cause discolouration of the nails but otherwise it’s a very safe drug.”
Complications from failing to control sickle cell anaemia can lead to a number of health issues, ranging from leg ulcers and breathing issues to pulmonary hypertension and organ damage. Dr Al Mehairi says that the majority of complications are caused by people failing to comply to medical advice. “It is very important — especially if there is a family history of the disease and the patient shows early signs of the disease — to prevent complications,” she says.
“The main reason for people developing complications is when they or their families are not compliant with taking medication, especially when they need to take medicine every day.”