Understanding Thalassaemia: Symptoms, Causes and Treatment

Dr.Roshan Dikshit, 4 mins read

Thalassemia is an inherited blood condition that causes anaemia. As a result, the patient's body lacks healthy red blood cells, which are necessary to carry oxygen around the body. 

Symptoms

Some babies develop symptoms at birth and others show symptoms during the first two years of age. However, in some cases, babies may not produce noticeable symptoms.

The signs and symptoms of thalassaemia depend on its type and severity.  Here are some common symptoms:

• Fatigue
• Pale skin
  
• Dark urine
  
• Weakness
  
• Slow growth
  
• Abdominal swelling
  
• Facial bone deformities
  

Causes

Thalassemia occurs due to the mutation in the DNA of cells that produce haemoglobin. This mutation can pass from one generation to another.

There are two types of thalassaemia:

• Alpha-thalassaemia: It occurs when genetic changes happen in two genes (HBA1 and HBA2). The severity of alpha-thalassaemia depends on the number of gene mutations you inherit. The higher the number, means more severe thalassaemia.
• Beta-thalassemia: It involves genetic changes in one gene (HBB). Its severity varies on the basis of which part of the haemoglobin molecule is affected.

There are two genes involved in making the beta-haemoglobin chain. If you inherit one mutated gene, it is called beta thalassemia minor. In this, you usually have mild symptoms. If you inherit two mutated genes, the symptoms will vary from moderate to severe and it is known as a beta thalassemia major.

Those with a moderate form of thalassaemia may experience conditions like iron overload and infection. 

An iron overload situation could occur either due to the disease or frequent blood transfusions, which are needed for treatment.  Too much iron in the body affects the functioning of several organs. 

In the case of severe thalassaemia, a person could have bone deformities, an enlarged spleen, heart problems and/or a slow growth rate.

Treatment

Usually, mild thalassaemia might not need treatment. However, you should consult your doctor. He will evaluate your child's health and based on that suggest you on the right path. But moderate and severe thalassaemia require medical attention. Here are some treatment options for thalassaemia:

• Frequent blood transfusions: Severe thalassaemia usually requires a blood transfusion every week. But this needs to be done under the supervision of experts.
• Chelation therapy: Due to frequent blood transfusions, the patient’s body gets too much iron in the body, which needs to be reduced. Chelation therapy helps with this. You might receive some medicines through a syringe and mouth in this therapy.
• Bone marrow transplant: This might be a good option in many cases. This procedure involves infusions of healthy stem cells to the patient from a compatible donor. It can elevate the need for life-long blood transfusions and medicines to remove excess iron.

Also, Read: What You Need to Know About Bone Cancer