Planning A Family? Here's Why Thalassemia Screening Before Marriage Matters
Thalassemia, hereditary blood disorder, impairs the body’s ability to produce sufficient haemoglobin. With early screening, this disorder can be entirely avoided.
Observed annually on May 8, World Thalassemia Day serves as a vital reminder to acknowledge the challenges faced by those living with thalassemia, while also promoting efforts to prevent the condition altogether. More than just a medical concern, thalassemia is a social issue that demands greater awareness, public acceptance, and a proactive stance on prevention, particularly through premarital screening. With early intervention and informed choices, this lifelong and often debilitating disorder can be entirely avoided.
Thalassemia is a hereditary blood disorder that impairs the body’s ability to produce sufficient haemoglobin, an essential component of red blood cells responsible for transporting oxygen. As a result, individuals with thalassemia suffer from chronic anaemia and often rely on regular blood transfusions to survive. However, these transfusions offer only temporary relief and come with long-term risks, including iron overload, organ damage, and increased vulnerability to infections. They also impose significant emotional and financial strain on patients and their families.
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What many don’t realise is that thalassemia is entirely preventable. The condition arises only when both parents are silent carriers of the faulty gene—individuals who typically show no symptoms and may remain unaware of their status without a specific blood test. Tragically, many couples discover they are carriers only after the birth of a child with thalassemia major, a diagnosis that brings lifelong challenges.
Dr. Shubham Bhattacharya, Hematologist at CMRI Hospital Kolkata, says, “From an affected perspective, if both parents are carriers, there would be a 25% risk during each pregnancy that a 50% chance of producing a child who is also a carrier, and only a 25% chance of a completely unaffected child. But this genetic lottery can be avoided through a simple blood test, such as Haemoglobin Electrophoresis or HPLC (High-Performance Liquid Chromatography)—conducted before marriage or family planning."
Several countries like Greece, Cyprus, and Italy have successfully reduced or eliminated thalassemia cases by mandating premarital screening. Dr Bhattacharya continued, “India has the medical infrastructure to achieve similar results, but what we need is stronger implementation and greater public participation. In some Indian communities, carrier rates are alarmingly high, ranging from 10% to even 30% in specific pockets, making widespread screening not just beneficial, but urgent."
“If a couple is found to be at risk, genetic counselling becomes critical. Should they decide to proceed with having children, prenatal diagnostic testing during the first trimester of pregnancy (preferably before 12 weeks) can help detect whether the fetus is affected by thalassemia major. Based on the results, couples can explore their options and receive appropriate support. That said, prevention before conception remains the best path forward—medically, emotionally, and ethically," added Dr Bhattacharya.
Thalassemia may be genetic, but with the right awareness and timely action, it can be prevented.
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