Common miss in lab reports can overlook this genetic disorder mirroring anemia; over one lakh active cases in India

With World Thalassemia day around the corner, a common miss in the blood reports can make people confuse the lesser severe form of the genetic disease with iron deficiency and enable them to increase their iron supplementation, resulting in iron overload in the body.

Thalassemia is a genetic disorder which can cause many complications and have anemia as one of the symptoms. 

Though the symptoms might resemble iron deficiency anemia, the conditions are not the same. 

An anemia caused by iron deficiency is because of iron shortage in the body or empty reserves, however, in Thalassemia the fault lies with the structure of  hemoglobin affecting the oxygen transportation and not necessarily iron vaults.

In cases of less severity, Thalassemia patients can benefit from low dosage of iron to compensate for the symptoms mirroring iron deficiency but if one is not careful, it can cause iron overdose in the body.

India has a huge burden of Thalassemia with an estimated 1,00,000 people affected by the major form of the disease.

As per a study, it alone contributes to 25 percent of the cases globally. Statistics have not hesitated to call it the ‘Thalassemia Capital of the World’. 

Iron deficiency versus Thalassemia

Both the conditions are related to red blood cells and often get linked. However, they are different in origin but similar in presentation.

When there is shortage of iron in the blood, an element that makes the protein hemoglobin which in turn carries oxygen to all the cells, or its reserves in the body are getting depleted, then it is clinically understood as iron deficiency and the affected person is said to show signs of anemia.

Thalassemia, on the other hand, is a genetic disease which affects how the body makes red blood cells. When an impaired gene is transferred from a parent or both to the child, it can cause the body to make abnormal hemoglobin, one which is unstable.

As per the Cleveland Clinic, one can inherit the faulty genes in either of the protein chains that make hemoglobin, alpha or beta.

The alpha chain has four genes and the beta chain has two genes. One can miss one, two or even all genes in either of the protein chains and this decides if the symptoms are going to be mild, moderate or severe.

Severe forms of the disease can harm the internal organs and might require frequent blood transfusions.

When the poorly structured hemoglobin fails to sustain its function, this causes the red blood cells to lose their average life span. So, people having this disorder have only few healthy blood cells to transport oxygen and keep the body fueled. 

At this point, it closely resembles the symptoms which are common in iron deficiency anemia – dizziness, fatigue, fluttering heart, shortness of breath, headaches, pale skin and others.

But here’s the catch: there is much more to Thalassemia and these symptoms are just one part of the big problem.

Reports and confusion

Since major thalassemia can cause significant symptoms like an enlarged spleen (trying to make more red blood cells) and altered bone structure because of the overworking bone marrow, these signs are not missed and can alert the treating doctor.

However, not all people have major Thalassemia, some might show a trait which can cause mild anemia.

So, it can be easily confused for iron deficiency in the blood reports.

For instance, both iron deficiency anemia and Thalassemia share low hemoglobin count (Hb) and red blood cells that are smaller than the normal range. 

There are intricate calculations of volume ratio that can differentiate between the two but in a passing glance the results can look confusing.

Some patients with these reports might pump up their iron intake, not knowing their body has adequate reserves.

Speaking to DH, Dr. Suchismitha Rajamanya, Lead Consultant in Internal Medicine at Aster Whitfield Hospital (Bengaluru) said: “Thalassemia trait closely mirrors symptoms of iron deficiency. One might think the body isn’t getting iron enough but the internal picture could be very different. It's the oxygen carrier which is deformed. Also, the body stores iron in internal organs like the liver, heart and pancreas. If one is overtaking iron more than needed, it is going to be an overload and it will start to damage the organs, resulting in complications.”

The expert also explained how a serum ferritin (a blood protein carrying iron) count is useful in understanding if the iron reserves are intact or not. 

Iron toxicity can affect the sensitive lining of the soft tissues, leading to formation of scar tissues and causing obstructions in delicate organs. 

The experts also pointed out that it is becoming common for people to randomly pick up iron supplements when they feel tired.

Speaking to DH, Dt Deepti Lokeshappa, a senior nutritionist at the Motherhood Hospital, Indiranagar ( Bengaluru) said: “There is no inherent bodily function to eliminate extra iron from the body and this makes it trickier to carelessly pop in the iron tablets. People having Thalassemia are already having few to many parts of the body overworking to make blood cells, adding extra iron is just adding to the existing metabolic burden.”

Most experts agree on not consuming iron without the guidance of a trained health professional.