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Thalassemia: A Genetic Disorder

thalassemia-a-genetic-disorder

What is Thalassemia ?

Thalassemia is an autosomal recessive blood disorder. It is a genetic disorder that is acquired from the parents. The affected person can not produce sufficient amount of blood cell that is required for the proper functioning of the body because of faulty mechanism of the production of Haemoglobin ( the molecule that carries oxygen ). Due to this disorder, the affected person suffers from terrible 'Anemia'.

There are two types of thalassemia :

1. Alpha-thalassemia &

2. Beta-thalassemia.

Alpha-thalassemia is less severe than beta-thalassemia. Beta-thalassemia can be detected within a few months of birth and if not treated immediately, the baby may die within 2-3 years.

In the world, alpha-thalassemia is much more common than beta-thalassemia.

Pic: How haemoglobin protein is produced

Pic: How haemoglobin protein is produced

Pic: Thalassemia at genetic level

Pic: Thalassemia at genetic level

Symptoms of thalassemia

1. Presence of excessive amount of iron in the blood.

2. Various infections.

3. Abnormal bone formation.

4. Enlargement of the spleen.

5. Dizziness and weakness.

6. Jaundice.

7. Underdevelopment of the body.

8. Frequent fever.

9. Various heart diseases.

10. Overgrowth of facial bones.

Pic: Symptoms of thalassemia

Pic: Symptoms of thalassemia

Reasons

Faulty haemoglobin gene is mainly responsible for thalassemia. This faulty is inherited from the parents. If one of the parents or both of them carries the faulty gene, then there is a huge risk that this gene may transfer to the off-spring.

Alpha-thalassemia: The 16th chromosome is responsible for the occurance of alpha-thalassemia. Any mutation in the 16th chromosome can lead to this type of thalassemia. Four genes construct the sickle of alpha thalassemia. If one gene is mutant, then no symptom can be observed but he/she can transmit the gene to the off-spring. If two of these genes are mutant, then very few symptoms will be detected. If there are three mutant genes, then this can cause severe alpha-thalassemia. This condition is also known as " Haemoglobin H Disease". But if all the four genes are mutant, then this phenomena is called "Alpha thalassemia major".

Beta-thalassemia: The sickle of beta-thalassemia is constructed by two genes and these genes are found in the chromosome 11. If one gene is faulty, then this condition is known as "Beta-thalassemia minor", but if both the genes are mutant, then this phenomena is called "Beta-thalassemia major".

Pic: How thalassemia gene is inherited

Pic: How thalassemia gene is inherited

Treatment

Periodic blood transfusion is the main treatment of thalassemia. Again, too much blood transfusion may cause the deposition of iron in various tissues, which can be life-threatening to the patient. I such cases, iron chelation therapy is done to remove the deposited extra iron from the body.

Bone marrow transplant is a modern and advanced way of treating thalassemia.

Cell therapy and gene therapy can also be another options.

Pic: Some treatment procedures of thalassemia

Pic: Some treatment procedures of thalassemia

Prevention

Thalassemia is a preventable disorder. If the parents both are the 'carriers' or one of them is the 'carrier', then, there is 25% chance that their off-spring may be thalassemic. So, before marriage, a test called "Haemoglobin Electrophoresis" should be done to identify whether any thalassemic gene is present or not in the chromosome of the parents.

During the time of pregnancy, Chorionic virus sampling, Amniocentesis and fetal blood sampling can be done to identify whether the foetus is thalassemic or not.

People awareness is the main factor for preventing the spread of thalassemia.

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© 2019 Bishajit Sarkar

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