Thalassemia and haemoglobin disorders often go undetected
Dr Abhik Banerjee
Hemoglobinopathies, genetic conditions that affect the structure or production of hemoglobin, often go undiagnosed because symptoms can be very mild or easily mistaken for common issues like weakness or fatigue. Many people carry abnormal hemoglobin traits without any visible signs, which increases the risk of passing on serious conditions like Thalassemia to their children. This makes early screening, especially premarital and pre-pregnancy testing, extremely important.
Abnormal hemoglobin levels may be missed during routine blood tests. Basic tests can detect anemia, but do not always identify the specific genetic problem. This leads to delayed diagnosis and missed opportunities for counselling and preventive care. Targeted diagnostic tests such as Hemoglobin Electrophoresis, HPLC testing, and genetic mutation analysis are essential for accurate detection of Thalassemia traits and other hemoglobin disorders. If both partners carry the Thalassemia trait, there is a 25% chance that their child will be born with Thalassemia Major, a severe and lifelong condition requiring regular blood transfusions. With simple screening, these risks can be identified early and managed through counselling, planning, and timely medical guidance.
Specific Tests Needed
Routine blood tests often miss hemoglobin disorders, which is why we advise more specific tests for accurate diagnosis. Tests like Hemoglobin Electrophoresis help us separate and study different types of hemoglobin to see if a person carries an abnormal form. HPLC is even more precise and gives a clear picture of all hemoglobin components, making it easier to identify silent carriers. In some cases, we also recommend genetic mutation analysis, which checks the DNA directly to confirm the exact mutation responsible for the condition. These tests guide us in offering the right counselling to individuals and couples. If both partners are carriers, there is a 25% chance of having a child with Thalassemia Major, a lifelong and serious condition. This is why premarital and pre-pregnancy screening is extremely important. With awareness and timely testing, families can prevent avoidable suffering and make informed decisions about their future.
With advancements in diagnostic technology and growing public health awareness, early detection of hemoglobin disorders is now easily achievable. Doctors stress that community outreach programs, routine screening drives, and counselling initiatives can significantly reduce the burden of undiagnosed cases. Hospitals also encourage individuals especially those planning a family to proactively opt for these specialized tests even in the absence of symptoms. Increasing public awareness and strengthening preventive screening can play a vital role in reducing the incidence of severe Thalassemia and helping future generations lead healthier, more informed lives.
