Sickle Cell Anaemia is an autosomal recessive inherited disease in which the shape of Red Blood Cells is abnormal. The crescent/sickle shaped RBCs are stiff and sticky unlike the normal biconcave discs. They hence tend to obstruct the flow of blood and form lumps in the vessels. These abnormal RBCs have a very low life span of only 10 – 20 days and lead to ineffective transport of oxygen in the blood.
Sickle Cell Anaemia is caused by a defect in the haemoglobin beta gene in chromosome 11. If only one mutated gene is passed on to the offspring, he is only a carrier of the disease and can live a normal life. However, if both parents carry the gene for Sickle Cell Anaemia, there is a 25% probability of the child to be affected by the disease.
Sickle Cell Anaemia can be diagnosed before birth by Amniocentesis in which amniotic fluid from the mother’s womb is tested for chromosomal defects in the baby. Post-birth, Sickle Cell Anaemia can be diagnosed through Blood tests to check for the defective Haemoglobin S gene form and count of Red Blood Cells. Haemoglobin Electrophoresis is essential to confirm the diagnosis of the disease.
Sickle Cell Anaemia can only be treated by a Bone Marrow Transplant. The stem cells of a suitable and compatible donor, preferably closest relative, are injected in the patient. These cells differentiate and replicate to form normal Red Blood Cells and they resume normal functioning of the body. This treatment is most effective and likely to be successful in children who are less than 16 years old.
Other medications that help reduce the effect of the symptoms of Sickle Cell Anaemia include
Rehydration with fluids to help RBCs go back to their normal state and Blood Transfusion in order to meet the requirements of oxygen in the body. Immunization helps to prevent the frequent infections in the body and Pain killer medicines aid during pain crises.
In case of a bone marrow transplant, the patient is monitored by the doctor for signs of graft rejection. A medication for GVHD is given to prevent it from occurring. Antifungals, antivirals and antibiotics are also given in order to prevent all sorts of infections. Regular blood tests are conducted in order to check if blood counts are back to normal and to check the functioning of the donor’s stem cells in the recipient. The patient may require blood transfusions in case of too much blood loss or slow recovery.
MD - Pathology, DM - Clinical Haematology - Hematologist