Authors: Muhammad Huzaifa Khan and Ammara Hussain

Pakistan faces predominant beta-thalassemia as one of the leading causes of death.

People are usually unaware of what thalassemia is and how it can develop in later stages of life. Let’s look at briefly what thalassemia is and what can be thalassemia types, symptoms, and treatments.

What is Thalassemia?

Thalassemia is a blood disorder that results in the excessive destruction of red blood cells and abnormal haemoglobin production. Almost all thalassemia patients have acute anaemia. Thalassemia is an inherited disease, meaning either one of the parents must have been carrying such a gene. Other times, thalassemia is caused due to a gene abnormality or a gene mutation.

There are different types of thalassemia, which as a result affects each patient differently than the rest. There are three different types of thalassemia;

• Alpha Thalassemia

• Beta Thalassemia

• Minor Thalassemia

Each of such thalassemia types has further subtypes that have different causes and triggers.

Symptoms

The symptoms of thalassemia vary for each individual, however, some of the most common are:

• Bone deformities- if a child is born with thalassemia (depending on the degree of thalassemia), he/she is likely to have more facial bone deformities.

• Dark urine

• Stunt growth and delayed development

• Excessive tiredness

• Yellow and plain skin

It merits here to mention that not everyone shows the same signs and symptoms. Some symptoms surface later in childhood and adolescence.

Diagnosis

The most common diagnosis for Thalassemia is taking a blood sample and sending it to the lab for test. The lab technician will perform haemoglobin electrophoresis and observe red blood cells under a microscope. If the red blood cells are oddly shaped, this means that there are solid chances of the blood disorder.

As there are different types of thalassemia, depending on the severity a physical examination might also be enough to determine which kind of thalassemia one suffers from. For example, someone who has an abnormally enlarged spleen will be recommended to get tested for thalassemia test.

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The final outlook

If anyone is suffering from thalassemia or feels any of the symptoms, they should not shy away from asking for immediate help. There can be severe complications which can include liver, abnormal skeletal, and endocrine function failure. A doctor will guide better about the affected patient’s condition.