New Delhi: Thalassemia is one of India’s most common inherited blood disorders, with 10,000 to 15,000 children born with beta thalassemia major each year, and an estimated 42 million Indians being silent carriers of the disease-causing gene mutation, most of them unknowingly. Incidentally, India carries a staggering share of the global burden of the disease. As consanguineous marriages are common in the country, it has significantly increased the chances of inheriting thalassemia genes in the population. Routine blood tests like CBC (Complete Blood Count) can reveal abnormalities in blood, but genetic testing is crucial for detecting the hereditary risk of Thalassemia in couples planning to marry or have children. Dr Prashanth Bagali, Head, Scientific Affairs, MedGenome, explained whether or not this crisis can be prevented before it causes severe health problems.
Understanding Thalassemia and Its Inheritance
Thalassemia is a genetic disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In its severe form, beta thalassemia major, the body fails to produce enough functional beta-globin chains that are found in hemoglobin. This is caused due to mutations in the HBB gene, which is responsible for beta-globin production. As a result, red blood cells break down prematurely, leading to chronic and often life-threatening anemia.
Inheritance of Beta Thalassemia disease follows an autosomal recessive pattern. This means that if both parents are carriers of one faulty copy of the HBB gene, there is a 1 in 4 chance (25% chance) with every pregnancy that their child will inherit two faulty copies – one from each parent, and develop beta thalassemia major, a serious form of the disease. If the child inherits only one defective gene, they will be a carrier. Carriers usually don’t have symptoms but can pass on faulty genes to their children.
Impact of Thalassemia
Symptoms of beta thalassemia major usually begin to show between 6 months and 2 years of age. These may include severe fatigue, poor appetite, irritability, delayed growth, bone deformities, especially in the face and skull, and an enlarged spleen. Repeated blood transfusions become a lifelong necessity to manage anemia, but they also introduce iron overload, which can damage vital organs such as the liver, heart, and endocrine glands, if not carefully managed through iron chelation therapy.
In the absence of early intervention and regular treatment, the condition significantly reduces life expectancy and quality of life. While bone marrow transplantation offers a potential cure, it is only viable in a small subset of patients due to its cost, risks, and the need for a compatible donor. This makes prevention the most effective strategy.
Importance of Screening and Genetic Counselling
The first level of prevention is carrier screening. A simple blood test can determine whether a person is a carrier of faulty copies of the thalassemia gene. Unfortunately, many carriers are asymptomatic and remain unaware of their status unless tested during pregnancy or after a child shows symptoms of Thalassemia. Genetic screening programs, particularly for couples before conception or early in pregnancy, are critical in identifying genetic risk within families.
If both partners are found to be carriers, they can receive genetic counselling to understand their reproductive options. These include prenatal diagnosis through chorionic villus sampling or amniocentesis or mother’s blood (cell-free fetal DNA), preimplantation genetic testing (PGT) during in vitro fertilization (IVF), using donor sperm or eggs, or considering adoption. Couples who are aware of their risk can make informed choices to avoid passing the genetic condition on to their children and to reduce the genetic burden within the family.
Management and Treatment
Advances in genetic testing technologies have dramatically improved early detection. Techniques such as next-generation sequencing (NGS) and targeted mutation panels allow for the precise identification of HBB gene mutations. In high-risk populations or regions, community-based screening programs and non-invasive prenatal testing (NIPT) are emerging tools that help in early, accessible diagnosis well before the disease becomes a medical emergency.
For families already living with thalassemia, patient support groups offer critical assistance ranging from medical guidance and emotional support to help with blood donations, medication access, and navigating healthcare systems. These associations also serve the important function of informing the public, as well as lobbying for changes to policy so that therapy can be made available for subsidized treatment, and screening to be mandatory. Despite the complex nature of thalassemia from a medical point of view, the most important step is incredibly simple: take a blood test (before marriage, or early in pregnancy). The carrier prevalence is very high in India; thus, every couple wanting to extend a family free of genetic risk should be screened, regardless of family history or symptoms.
Awareness is the first step in this direction, and in addition to the clinical experts, genetic counsellors can help in the understanding and interpretation of the genetic testing process and results. This ensures that the couple is aware of their carrier status, and, at the same time, considers all available options, medical and personal. Counselling also helps to make sense of the insights provided by the clinicians and supports couples to make informed decisions about a preventable lifelong disease in their children.
Thalassemia may be hereditary, but ignorance is not. Prevention is based on awareness, and one informed choice can be a game-changer.
Thalassemia is a genetic disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In its severe form, beta thalassemia major, the body fails to produce enough functional beta-globin chains that are found in hemoglobin. Health News Health News: Latest News from Health Care, Mental Health, Weight Loss, Disease, Nutrition, Healthcare
