Thalassemia – causes and treatment

Overview

Thalassemia is a genetic disorder that mutates the haemoglobin in your blood and makes it abnormal. It is an inherited blood disorder. It destroys the red blood cells in your body,thus leading to anemia. 

Haemoglobin is a complex protein molecule present in red blood cells. It is responsible for transporting oxygen throughout your body. When the normal functioning of haemoglobin gets affected, it leads to detrimental effects on your health. 

Thalassemia is a genetic disorder that transfers from either of your parents to you. If you are affected by mild thalassemia, you do not show any serious symptoms and mostly wouldn’t require any treatment. 

But thalassemia can affect in more severe forms that require regular treatments including blood transfusions. 

What causes thalassemia?

Thalassemia is caused by the mutations that happen in heamoglobin. Haemoglobin molecules are built up of complex chains called alpha and beta chains. The genetic mutations reduce the production of alpha or beta chains thus leading to alpha thalassemia or beta thalassemia, respectively. 

Alpha thalassemia

The severity of alpha thalassemia depends on the number of genetic mutations that you inherit from your parents. If you inherit up to two mutated genes, the disease will not be more severe. But in the case of three mutated genes, the symptoms will be severe. 

Inheriting four mutated genes is usually rare and often results in the death of the child or requires a lifelong transfusion. In some rare cases, this condition can be treated with stem cell transplantation. 

Beta thalassemia 

In this type, the severity of the disease depends on which part of the chain gets affected. If you inherit only one mutated gene, that condition is called thalassemia minor and is usually mild. 

If you inherit two mutated genes, it is called thalassemia major and often results in severe symptoms. It is also called Cooley anemia. 

What are the types of thalassemia?

Apart from alpha and beta forms, based on the genetic transfer, thalassemia can be classified into two types namely thalassemia major and thalassemia minor. 

If the mutated gene is passed on to you from only one of your parents, it is called thalassemia minor. In this case, you will not develop any serious symptoms. But you will become a carrier and pass mutated genes to your child. 

If you inherit the mutated genes from both of your parents, then it is termed as thalassemia major. It is a serious form of the disease and requires effective medical intervention. 

Both thalassemia types are commonly prevailing in Asia, the Middle East, Africa, and some Mediterranean countries. 

What are some common thalassemia symptoms?

Different types of thalassemia have different symptoms. The symptoms also vary based on the severity of the disorder. Some common thalassemia symptoms include:

• Weakness
• Fatigue
• Dark pigmented urine
• Delay in body growth and development
• Deformities in bone, especially in the face
• Pale or yellow skin
• Swelling in the abdomen 

Children affected by thalassemia with only one mutated gene do not show any symptoms. For some babies, the symptoms will be prominent during the time of birth. But for some, the symptoms develop during their initial years. 

How is thalassemia diagnosed?

For diagnostic purposes, your doctor will ask for your blood sample and test it for anemia to find out if there are any abnormalities in the haemoglobin. If they find out that some haemoglobin cells have an odd shape, you will most likely have thalassemia. 

Doctors and labs also use haemoglobin electrophoresis to find out if you have thalassemia. This equipment separates different molecules in red blood cells; thus, the deformed cell can easily be spotted. 

Based on the severity of your disease, doctors will suggest thalassemia treatment. 

How is thalassemia treated?

Your doctor would suggest different treatments based on thalassemia type and the severity of the disease. Some common thalassemia treatment methods include:

• Blood transfusion
• Bone marrow transplant
• Surgical interventions to remove spleen or gall bladder
• Medications

In the case of blood transfusions, the risk posed by iron is more. If your body gets more iron, it will accumulate in your tissues and can be fatal. So, doctors usually instruct not to take supplements that contain iron in any form. 

Thalassemia and life expectancy

This genetic disorder can be a life-threatening one if left untreated. If a person carries more than three mutated genes, normally the severity of the disease will be higher. 

It is difficult to conclude the exact life expectancy of thalassemia. But according to some studies, many people affected with severe forms of beta thalassemia die by the age of 30.

However, most of the deaths are attributed to the overload of iron in the body. But with the coming of technologies, the fatality can be minimised. 

A word of concern

Although an advanced form of thalassemia is a fatal genetic disorder, it can be treated if you consult your doctor early. If you’re undergoing a blood transfusion, you need to be aware of your daily iron intake. 

Since it is a genetic disorder, there is not much of a way to prevent this from occurring. However, early diagnosis and treatment will be very effective both in terms of easing the burden and curing the disorder completely.