Hemoglobinopathies are one of the most common inherited diseases in the world. Of these, sickle cell disease (SCD) is very important because the sickle cell gene is found in high frequency (1.0 to 40.0%) in the tribal populations of India, especially central India.
SCD is a serious disease in which the body makes sickle-shaped red blood cells. Normal red blood cells are disc-shaped and they move easily through blood vessels. Sickle-shaped cells don’t move easily through blood vessels. They are stiff and sticky and tend to form clumps and get stuck in the blood vessels. This leads to reduced blood and oxygen supply to different organs. Blocked blood vessels can cause pain, serious infections, and organ damage.
SCD is a lifelong disease and currently bone marrow transplantation is the only curative option. However, the symptoms can be effectively managed with adequate counselling and specific therapy.
The quality of life in severe cases can significantly improve with regular treatment with Hydroxyurea. Indian Council of Medical research (ICMR) has initiated a new-born screening program in six states across India with high prevalence of SCD to identify the children with SCD soon after birth and are provided comprehensive care including vaccination, Folic acid supplementation, prophylactic antibiotic therapy and other therapies like Hydroxyurea therapy whenever required to reduce the complications related to SCD.
More than 13,000 new-borns have been screened in last two years and 110 new-borns with SCD have been identified and are currently being provided with comprehensive care.
ICMR-National Institute of Immunohaematology (NIIH), Mumbai is working in the area of Haemoglobinopathies and for last 35 years. ICMR-NIIH has conducted many studies across India to understand the population prevalence of SCD in different tribal populations.
SCD is caused by mutation in the gene that encodes for beta globin, called HBB gene. It leads to formation of haemoglobin S. Each individual has two copies of genes. SCD is is inherited in autosomal recessive manner which means that when both copies carry the mutation, it results in sickle cell anemia.
When an individual has one copy normal and one has a mutation for HbS, he is called as sickle cell carrier or trait. If both parent are carriers, there is 25% chance of having a SCD baby and 50% chance of it being carrier during every pregnancy.
SCD is a preventable disease. If we identify that both parents are carriers early in pregnancy, foetus can be tested between 10-18 weeks of gestation. If the foetus found to be having SCD, decision of termination of the pregnancy can be taken by the parents thus preventing birth of an affected baby.
ICMR-NIIH established the facilities for genetic diagnosis and prenatal diagnosis for the first time in India in the year 1987. We have carried out prenatal diagnosis for more than 2500 families across India. We are also currently carrying out antenatal screening program for pregnant women in Chandrapur, Gadchiroli and Nandurbar district.
Due to high prevalence of SCD in Vidarbha region, ICMR-NIIH has established a ‘Satellite Centre for Hemoglobinopathies’ since December 2015 as an interim facility in TB Sanitorium at Govt. Medical College, Chandrapur.
Working in close collaboration with the Government Medical College, Chandrapur, and District Civil Hospitals at Chandrapur and Gadchiroli, the centre has initiated many important activities including antenatal screening programme and the new-born screening program for hemoglobinopathies.
A permanent “Centre for research, Management and control of hemoglobinopathies” is planned and being constructed at Chandrapur. It is expected to be completed by Dec 2021. This centre will continue to support the efforts of state and district administrations for control and management of haemoglobinopathies.
On the occasion of world sickle cell day let us all pledge to create awareness about this disease, facilities available for treatment of the disease, highlight the importance of regular follow-up and adequate therapy and encourage young adults and married couples to get themselves tested themselves for this preventable disease.
Disclaimer:The author Dr Manisha Madkaikar is Director, ICMR-National Institute of Immunohaematology, 13th floor New Multistoreyed Building KEM Hospital campus, Mumbai. Views expressed are personal