It is a genetic disease that causes severe disability and even death in many patients. The disease causing geneis passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected.
Affected children suffer from anaemia, severe episodes of pain in chest, abdomen or joints, painful swelling of hands and feet, frequent infections, shortening of height, blindness, stroke or even death if not treated properly.
It happened because in sickle cell disease, the red blood cells become rigid and shaped like sickles. These irregularly shaped cells can get stuck in small blood vessels, which slows and blocks blood flow and oxygen to parts of the body.
If only one parent passes defective gene to the child, that child will have the sickle cell trait. Their blood might contain some sickle cells, but they generally don't have symptoms. But they are carriers of the disease, which means they can pass the gene to their children.
It is a disease that causes severe debility and misery. Children suffer severe infections with frequent episodes of severe incapacitating joint pains and even paralysis due to strokes. In fact, in India, one of the ICMR surveys found that 20% of children with sickle cell disease die by the age of 2 years! In some affected areas, 30% of all affected patients die before reaching adulthood!
In India, there is a huge sickle population in parts of Maharashtra, Gujrat, Madhya Pradesh, Chattisgarh, Bihar and some parts of West Bengal, Kerala and Tamil Nadu. Valsad and Nagpur have large population of patients suffering from the disease. It is estimated that upto 40% of the population in the affected regions carry the defective gene. Exact numbers for the disease in India is not know, but is is estimated that worldwide 300,000 children are born every year with sickle cell disease.
Treatment includes medicines to reduce pain, blood transfusions to treat the anaemia and antibiotics to treat infections. A Bone Marrow Transplantation offers the only known cure for the disease.
A BMT done early from an unaffected brother or sister who doesn’t have the genetic defect offers an excellent outcome with long term cure. Finding a suitable donor can be a problem as siblings may also be affected and in India finding an unrelated matched donor is very difficult.
Recent advances in BMT has made it possible for patients to have a transplant from brothers and sisters who are not fully matched with the patient. This new type of BMT called Haploidentical BMT offers the chance of a cure for a vast majority of patients.
Manish Bhoi, a 16-year-old patient, suffered from repeated painful swelling of hands and feel and had multiple admissions for infections, joint swellings and severe headaches. He was diagnosed to have Sickle Cell Disease and even with optimum medical therapy continued to suffer with recurrent painful episodes and repeated hospital admissions. He was also admitted with suspected stroke! In fact, he became so distressed at the prospect of a lifelong battle with the disease that he got severe depression and needed extensive psychiatric therapy.
Understanding that a BMT offered him the only possibility of a cure, we started the process of identifying a suitable donor. HLA typing to identify a suitable match was done for the family, and though his sister was disease free, she unfortunately was only a half-match, as were his parents. A search was initiated to identify any possible fully matched unrelated donors, but unfortunately none were found.
As any further delay would only increase disease related problems and would make a transplant even more complicated, we decided to proceed with a half-matched (Haploidentical) transplant with his sister.
Unfortunately, we found that his sister had very high levels of antibodies directed against her brother’s cells (Donor Specific Antibody – DSA). This makes BMT extremely difficult as there is a high possibility of graft failure. Hence we initiated a novel innovative protocol to reduce the antibody levels before initiating the transplant protocol.
The BMT was done using his sister stem cells and he engrafted early by Day +11. He was kept under close supervision and discharged after a successful transplant.
First successful transplant for Sickle Cell Disease in Western India and that too using a Haploidentical donor.
Previous cases were mostly from Chennai, Delhi and Bangalore and were almost all using a fully matched sibling.
Our BMT program can bring about a paradigm change in the lives of all patients with Sickle Cell Disease.
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