By Dr. Namrata Singh
Sickle cell anaemia is not an anaemia that can be cured by eating healthy or life-style modifications, but it is an inherited disorder. In fact, it is one of the most common genetic haematological disorder, accounting for over 300000 births each year globally. It runs in family, but it does not mean we cannot do anything about it. With awareness and taking preventive measures, we can reduce the burden of this disease.
Parts of the world most commonly affected by this disorder are Africa, Middle East and India. Burden of this disease in India can be estimated from data showing 5200 live births each year, making it a major public health problem. Anthropological survey of India has documented frequency of sickle cell trait up to 35% in some communities. In India, Madhya Pradesh has the highest burden followed by Maharashtra, Gujrat, Kerala, and Tamil Nadu. Sickle gene is densely distributed in eastern districts, Satpura ranges in north and parts of Marathwada.
Biggest trauma of sickle cell disease is that it is responsible for deaths of children before reaching to adolescence and severe complications leading to poor quality of life. As it is an autosomal recessive genetic disease, it occurs due to mutation in beta-globin gene of haemoglobin. When both genes are affected, it is called sickle cell disease (homozygous) and when one gene is affected, it is called sickle cell trait (heterozygous), less severe form of the disorder.
This disease in inherited from parents, if both parents are carrying defective gene, chances of sickle cell disease (SCD) is 25% and if one parent is affected, chances of SCD is zero but 50% chances of having child with sickle cell trait. According to different areas, different haplotypes have been found which varies in severity as well. Good news is Indian haplotype falls in less severe category due to genetic makeup of Indian population. Few other reasons of having less severe form are co-inheritance of alpha-thalassemia, prevalence of high foetal haemoglobin, which has high affinity for oxygen, and persistence of enlarged spleen for longer duration, which prevents fatal bacterial infections in early life. New borns usually develop symptoms after 5 to 6 months of age when there is shift from foetal to adult haemoglobin.
Our RBCs are disc shaped and very flexible, easily pass-through narrow vessels to provide nutrition and oxygen to organs. Oxygen is carried with the help of a protein called haemoglobin. When gene-producing haemoglobin is mutated, abnormal haemoglobin is produced which not only have trouble in carrying oxygen but also changes shape of RBCs, making them sickle shaped. These sickle cells are non-flexible and sticky, leading to blockage of blood vessels and organ damage. As these cells die earlier in 10 to 20 days as compared to normal RBCs (average life span of 120 days), faster red cell death leads to anaemia. One of the most common symptoms is severe stabbing pain usually in abdomen or lower back. Symptoms can be generalised such as pallor, recurrent jaundice, infections, bone pain, leg ulcers, growth retardation or organ specific such as splenomegaly (enlarged spleen) and later auto-splenectomy, difficult breathing, stroke, priapism, kidney disease, issues with vision and many more.
Sickling test can help in screening target population, but it cannot distinguish between disease and trait. Here, comes the role of HPLC (High Performance Liquid Chromatography).
HPLC is a quick, easy technique, which segregates haemoglobins based on their retention time, used as screening and monitoring test. It is also a part of newborn screening, which can be done even on dry blood spot, increasing its availability to deliveries at home or rural areas. Confirmation and type of mutation can be done by DNA studies. Treatment is usually symptomatic including specific painkillers, antibiotics, blood transfusions. No definite cure but allogenic stem cell transplantation is an option in case of deadly complications.
Many Govt programmes and policies are implemented to reduce morbidity and mortality due to SCD. National Rural health Mission created in 2005, is supporting programmes running in different parts of country. The Gujrat Sickle cell Anaemia Control Society formed in 2011, working on preventing this disease from all aspects. Key points of these programmes are targeted and mass screening, Spousal counselling, Antenatal screening, pre-natal diagnosis, new-born screening, necessary laboratory investigations for early diagnosis and management, along with post-diagnosis counselling. Awareness about disease in adolescents and young adults and acceptance of pre-natal diagnosis are only ways, which can prevent birth of child with SCD.
Early diagnosis and treatment prevent complications and give better, longer life to them. On this World Sickle Cell Day, we hope shining little light on sickle cell help us to fight against and win over sickle cell anaemia, making world free from sickle cells.
(The author is a Consultant Pathologist, Metropolis Healthcare Ltd.. Views expressed are personal and do not reflect the official position or policy of FinancialExpress.com.)