HEALTH & FITNESS

World Thalassaemia Day: Doctor Speaks On Low-Awareness And Delayed Diagnosis

Sometimes regular blood transfusions can lead to too much iron in the body causing problems with the heart and liver.

I come across 30-40 patients suffering from minor thalassemia who are not even aware of the existence of this condition, says the expert.

Haemoglobin is an important blood protein responsible for the transport of oxygen across all body cells. In other words, it is often called the ‘oxygen carrier’. Thalassaemia is a group of conditions that can affect this protein and can lead to conditions like anaemia. For some, the disease might be mild but for others affected with a major form of the disease, it could mean visiting hospitals for a large part of their lives. The condition is genetic and can be transferred down the bloodline. The condition is predominantly common among people of Mediterranean and Asian origin. However, as per experts, there is a lack of awareness about it to the extent that many affected by it or living with it might be unaware of it.

As per experts, the prevalence of thalassemia is significant in numbers but awareness about the disease still lags. To strengthen the awareness drives about the condition, every year 8th May is commemorated as World Thalassemia Day. As per reports, India has a huge burden with an estimated 100,000 patients with thalassemia syndrome and around 150,000 patients with sickle cell disease, but few among them are optimally managed.

Disease and types

According to Dr Anurag Saxena, HOD-Internal Medicine ( Primus Super Speciality Hospital), a blood-related genetic disorder, thalassemia is caused by the lack of genes or errors in genes that are responsible for producing haemoglobin (a protein in red blood cells). It is further subdivided into minor, major and intermedia types of thalassemia based on the genes’ alpha or beta globin state. The types of treatment depend on the severity of thalassemia. While major thalassemia patients mostly diagnosed at early age require lifelong blood transfusion which results in reduced lifespan, minor thalassemia patients only report anaemic conditions, which too not necessarily.

Why diagnosis is a problem?

As per Dr Saxena, despite over ten thousand children being born with thalassemia condition every year in India, the measures to curb it are not sufficient. He said: “On average, I come across 30-40 patients suffering from minor thalassemia who are not even aware of the existence of this condition and 12-15 patients, diagnosed with major thalassemia.”

Since Thalassemia minor is a less serious form of the illness. This form of the disease might not be noticeable until later in later childhood or adulthood. The main health concerns associated with thalassaemia are anaemia causing severe tiredness, shortness of breath, pain skin and other symptoms due to lack of haemoglobin. Sometimes regular blood transfusions can lead to too much iron in the body causing problems with the heart and liver.

Expert speaks on low awareness

As per Dr Saxena, with the government’s effort towards the elimination of sickle cell disease by 2047 in this year’s budget, which is also a genetic disorder affecting the shape of red blood cells, immediate attention is also required towards the identification of thalassemia through conducting aggressive testing and augmenting the level of awareness about the disease.

Dr Saxena also laid importance on couples before planning children to consult the doctors and get themselves checked whether they have minor thalassemia or not. According to the expert, it is equally important because if both parents are thalassemia trait carriers, then there is a 25% chance of a child being born with a major thalassemia condition.

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