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8 Facts About Thalassemia, A Genetic Disorder

Dr. Sreelekha Daruvuri

2 Min Read

Thalassemia is a genetic disorder that affects the body’s capability to produce haemoglobin and red blood cells. A patient with thalassemia has too few RBCs and haemoglobin and the size of RBCs might be too small. It can range from a mild condition to a life-threatening disorder.

Symptoms of thalassemia

Pale skin and jaundice
Feeling tired and drowsy
Coldness in hands and feet
Shortness of breath
Rapid heart rate
Dark coloured urine
Delayed growth in children

Thalassemia also increases the risk of infections and one should take care of their immunity.

Some facts on thalassemia

Let’s look at some of the facts about thalassemia to understand this condition better-

This condition is common in people from Asian, South Asian, Mediterranean, Middle Eastern, and Caribbean regions.
There are two types of thalassemia- Alpha and beta, corresponding to the two types of protein chains that make up the haemoglobin (alpha-chain and beta-chain).
The severity of thalassemia depends on the number of genes that are abnormal or mutated. In Alpha-thalassemia, if 3 to 4 genes are mutated, then it is extremely severe. In beta-thalassemia, if 2 genes are mutated then it is also a severe form of this condition.
If both the parents carry the thalassemia gene, then they have a 1 in 4 chance of giving birth to a child with a serious form of this disease.
When serious, children with thalassemia must undergo blood transfusions at least twice a week to maintain optimum health. However, too frequent transfusions cause an excessive build-up of iron in the transfused RBCs making it toxic to the liver and other organs.
In order to combat this excessive build-up of iron, a special drug called Deferoxamine must be administered, which usually takes up to 12 hours. Deferoxamine helps in binding the iron together via a process known as chelation.
There is research underway for better chelation therapies that would require it to be performed less number of times or can be taken orally.
While chelation therapy has successfully increased the lifespan of patients, it has also led to other secondary problems such as heart disease, hepatitis, liver cancer, fertility issues and osteoporosis.

Procedures like bone marrow transplant and procedures revolving around gene therapy provide hope that this condition might one day become curable. Depending on the severity of the condition, patients with thalassemia may need constant medical care. They are advised to attend all their medical appointments on time and keep up with their transfusion and chelation therapies. Support from friends and family can help in maintaining a positive attitude and it is important to maintain a good diet along with a suitable amount of exercise.

Managing such severe chronic conditions can be difficult during the lockdown and with the ongoing pandemic, people with thalassemia possess the risk of comorbidity. Hence, they should take extra precautions to stay safe. If you know someone who is battling this condition, then do support them morally and help them in keeping up with their transfusion routines. India Khayal Rakhna.

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