Thalassemia – a story of love, hope and perseverance | MedGenome | MedGenome - Leading Genetics Diagnostics Lab in India

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Thalassemia – a story of love, hope and perseverance

Ramdev hailed from Orai, a small agricultural village in the district of Jalaun, Uttar Pradesh. He owned a piece of land and the income from his farming activities was enough to run his family that consisted of his wife Savita, two-year old son Sumit and six months old daughter Tanya. Life was content until the young couple started to observe significant changes in their son’s growth. The child displayed weakness and fatigue, exhibited slow growth and abdominal swelling and pale skin. Although the young parents tried to convince themselves that nothing was wrong with their son, parental instincts kicked in and they took their child to a primary health centre in the nearby town from where they were directed to Government medical college hospital in Jhansi.

That is where the couple learnt that their son was afflicted with a blood disorder called Thalassemia, that it was a hereditary disorder and that as part of treatment, he would require periodic blood transfusions. From what little they understood about the disease they hoped against hope that their young daughter would be spared. However, by the time Sumit needed regular transfusions, Tanya also was diagnosed with the same condition and thus a nightmare began for the parents of having to care for two ailing children. A couple of years later when the going became tough with frequent trips to the hospital in Jhansi for transfusion for both the kids and the mounting medical expenses, the young couple became desperate for some guidance to save their children.

One of their doctors mentioned that better health care facilities were available in Delhi not keeping them in dark about lower life expectancy in Thalassemia. But Ramdev and Savita were determined that their children deserved every single opportunity to live, however longer that was to be and wasted no time in selling their ancestral land to move to Delhi in hope of a miracle. Finding themselves jobs for sustenance, the couple approached an NGO referred by their doctor in Jhansi and with their help registered their children with a patient welfare society attached to a hospital that provided treatment for thalassemia patients at a nominal cost. Sumit and Tanya fought their condition bravely through their growing up years, pursued their education and made a mark for themselves. They couldn’t have been more grateful to their parents for never once giving up on them and for sacrificing the life they knew for the sake of their survival.

Thalassemia is an autosomal recessive disorder and is characterized by defective formation of hemoglobin, the component present in red blood cells that is responsible for the transport of oxygen to the cells. The hemoglobin is made of four globin molecules – two alpha chains and two beta chains and a heme molecule. Two genes, namely HBA1 and HBA2 make alpha globin chains and HBB gene is responsible for the formation of beta chains. All genes are present in two copies, one inherited from the father and the other from the mother. Variations in the sequence, known as mutations, in both copies of either HBA1 and HBA2 genes result in alpha thalassemia. Similarly, mutations in HBB gene result in beta thalassemia. Autosomal recessive disorders, like Thalassemia, occur either because both parents carry one copy each of the mutated gene and pass it on to their offspring or because of new mutation in an individual.

Sumit and Tanya came to know that both their parents were carriers of a defect in HBB gene and they unfortunately inherited the defective genes from both their parents. Over the years much has been discovered about the heritability of the disease and now tests are available to identify if parents carry a defective gene that can result in the disease condition in their baby. This is called carrier testing.

Carrier testing can help in identifying if both parents of a child with an autosomal recessive disorder carry the defective gene. It also helps in counselling of couples looking to marry in consanguinity or have a history of recessive disorders in their families. MedGenome Labs Ltd offers carrier testing for various recessive disorders and also provides genetic counselling services. A comprehensive genetic counselling that includes a detailed discussion with a healthcare provider to understand the nature of genetic disease, coupled with relevant genetic testing can go a long way in preventing inherited disorders.

Sumit, a doctor and Tanya, an architect, work in association with a patients support group formed for thalassemia patients and their families and do their little bit to help them get treatment and also create awareness about this preventable disorder.

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