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Sickle cell anaemia: Treatment, symptoms, advice and help

About sickle cell anaemia

Sickle cell disease is a serious inherited disease in which the body makes sickle-shaped red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (haemolysis), anaemia is the result. The sickled cells can also block blood vessels causing tissue and organ damage and pain.

Sickle cell anaemia: Incidence, age and sex

In black American populations, sickle-cell trait has a frequency of 8%.

Signs & symptoms of sickle cell anemia: Diagnosis

Symptoms usually don't occur until after age 4 months. Almost all patients with sickle-cell anemia have painful episodes (crises), which may last from hours to days. These crises can affect the bones of the back, the long bones, and the chest. Some patients have one episode every few years. Others have many episodes per year.

Common symptoms include attacks of abdominal pain ,bone pain ,breathlessness ,delayed growth and puberty, fatigue, fever, paleness, rapid heart rate, ulcers on the lower legs (in adolescents and adults) and yellowing of the eyes and skin (jaundice).

Diagnosis is by laboratory investigations. The blood film shows sickle cells, target cells and features of hyposplenism. Hb electrophoresis demonstrates the absence of HbA, 2 – 20% HbF and the predominance of HbS.

Causes and prevention of sickle cell anaemia

Sickle cell anemia is an inherited disease. People who have the disease, inherit two copies of the sickle cell gene-one from each parent. Homozygotes only produce abnormal beta chains that make haemoglobin S (Hbs, termed SS), and this results in the clinical syndrome of sickle – cell disease. Heterozygotes produce a mixture of normal and abnormal beta chains that make normal HbA and Hbs (termed AS), and this results in the clinically asymptomatic sickle -cell trait.

When haemoglobin S is deoxygenated it distorts the red cell membrane and produces characteristic sickle- shaped cells. The sickled red blood cells tend to stick together and block the blood vessels producing tissue and organ damage. Also, these blood cells are more fragile than usual and are easily broken down producing anaemia.

Since it is an inherited disease it cannot be prevented. People who are at high risk for sickle cell anemia and are planning to have children, may consider genetic counseling. A counsellor may help to understand the risk of having a child who has the disease and help explain the choices that are available.

Sickling of red blood cells can be prevented by getting enough fluids, getting enough oxygen, quickly treating infections, getting enough nutrition and activity and receiving proper vaccinations and antibiotics to prevent infections.

Sickle cell anaemia: Complications

Sickling is precipitated by hypoxia, acidosis, dehydration and infection. This results in a number of acute syndromes, termed crises’ and chronic organ damage.

Vaso-occlusive crisis. Plugging of small vessels in the bone produces acute severe bone pain with tachycardia, sweating and a fever. Sickle chest syndrome is most common cause of death in adult sickle disease. Sequestration crisis. Thrombosis of the venous outflow from an organ causes loss of function and acute painful enlargement. Aplastic crisis: Infection of adult sicklers with human erythrovirus 19 results in a severe but self-limiting red cell aplasia. This produces very low haemoglobin which may cause heart failure.

Sickle cell anaemia: Treatment

All patients with sickle – cell disease should receive prophylaxis with daily supplements of folic acid, and penicillin V to protect against pneumococcal infection which may be lethal in the presence of hyposplenism. These patients should be vaccinated against Pneumococcus and, where vaccine is available, haemophilus influenzae B and hepatitis B. Vaso-occlusive crises are managed by aggressive rehydration, oxygen therapy, adequate analgesia (which often requires opiates) and antibiotics. Allogeneic stem- cell transplants from HLA – matched siblings appears to be potentially curative.