Sickle cell anaemia is a rare genetic blood disorder which may cause body pains and if not treated at the right time could prove to be fatal
Your child has been suffering from immense pain and weakness. If you have a family history of sickle cell anaemia, it’s advised you test him/her for this rare ailment. “Sickle cell anaemia is a haemoglobin defect that generally occurs due to genetic reasons. The haemoglobin becomes rigid after losing oxygen. This makes it difficult for the RBC’s to pass through the vessel forming blocks that may affect various organs. The RBC’s get a shape like a sickle instead of its cup shape hence the name. It generally results in anaemia and may cause problems in the heart, eye and bone,” says Dr Srinivas Chakravarthy G, senior medical oncologist and haematologist, Apollo Hospital, Jubilee Hills. When the arteries are blocked, the blood does not reach the tissues of various organs of the body which if left untreated may result in permanent damage to that particular organ.
According to Dr K Sambhasivaiah, senior consultant medical oncologist and clinical haematologist, Kims, “A person suffering from sickle cell syndrome may suffer from pain, cramps, intestinal infections, heart attacks, visual disturbances, paralysis or even stroke. A pathologist is able to identify the ailment after a blood test because of the shape of the cell.” The symptoms also depend on the part of the body that has been affected.
Sickle cell anaemia usually occurs when both parents have sickle cell traits in their haemoglobin. Dr Sambhasivaiah says, “There can be two cases. In case one the child may inherit one set of chromosomes from one parent and another set from another parent. If only half of the chromosome contain sickle cell traits, then the child will have normal health and will not be affected by the ailment. The other situation is when both have traits of sickle cell anaemia; the child will develop problems such as complications in growth, pain, cramps and a sickle cell crisis.”
Prevention and Cure
Sickle cell anaemia can be diagnosed in early infancy as well as young adulthood.
Dr Srinivas mentions, “In order to prevent sickle cell anaemia genetic counseling may be conducted for the parents. Testing of the foetus may also be done if the ailment runs in the family.” If it is diagnosed after testing in the foetal stage that the child will suffer from a severe case of sickle cell anaemia, than at times termination of pregnancy is suggested. If a person is diagnosed with sickle cell anaemia, Dr Sambhasivaiah mentions that curative allogenic bone marrow transplant can be conducted. “If a person is unable to get a bone marrow transplant due to various causes such as no good match or if it’s too costly then they should follow other measures maintaining proper hydration, warm environment and avoid any infections.” Pain is the most common symptom. “Apart from treating the person for anaemia, certain pain medicines may be prescribed. The most common area where pain occurs is in the bones. Screening may also be done for various organs such as brain, heart, eye and kidney so that the organs can be saved from any kind of severe damage. If a bone marrow transport is to be conducted it should be conducted in childhood as it has more chances of success,” says Dr Srinivas. Sickle cell anaemia is curable if treated at the right time. Any delay in treatment can make the ailment fatal.
Other ways of preventing a sickle cell crisis include avoiding strenuous activities, stress, smoking, high-altitudes, non pressurised flights, drink plenty of fluids and avoid too much exposure to the sun.
India and sickle cell anaemia
According to Dr Sambhasivaiah, “It is a rare disorder and is not very common.”
Dr Srinivas mentions that cases of sickle cell anaemia have been seen in certain pockets of the country such as Central India, Telangana and North East India.