Thalassemia

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Today, Thalassemia is one of the most prevalent hemoglobinopathies affecting millions of people worldwide. Thalassemia has become a major health concern globally. 65, 000 children are born with beta-thalassemia major every year. The prevalence of beta-thalassemia is increasing day by day due to a lack of awareness, increasing population, and cousin marriages. According to statistical reports, 1 of 100,000 individuals suffers from beta-thalassemia major worldwide. Thalassemia is characterized by a substitution mutation in the beta-globin gene. Hemoglobin supplies oxygenated blood throughout our bodies. 

Symptoms of Beta Thalassemia

Symptoms of beta-thalassemia include Pallor, hypoxia, jaundice, fatigue, and loss of appetite. The person suffering from beta-thalassemia requires regular blood transfusion once a week to survive. Due to continuous blood transfusion, there is an excess iron built up resulting in toxicity to other body organs including the liver, heart, pancreas, etc. So, to remove the excess iron from the body, iron chelation therapy is employed. Most people are unable to bear the expenditures of these expensive therapies. So, the need of the hour is to implement effective and coherent preventive therapies to overcome the elevated cases of beta-thalassemia. 




Diagnosis

Beta-Thalassemia is diagnosed by Hb electrophoresis. CBC (Complete Blood Count) parameters can help with the early screening of beta-thalassemia. However, a test that confirms the presence of thalassemia is Hb electrophoresis. 


CVC (Chorionic Villus Sampling)

CVS is performed to find out whether the fetus in the mother's womb is sufferings from thalassemia major. CVC should be performed during the 12th week of pregnancy. 


Types of Thalassemia 

There are two main types of thalassemia i.e., Thalassemia major and Thalassemia minor.


Thalassemia Major:

 If a person carries a mutant gene sequence in both of the alleles then the person is said to be thalassemia major. The patient needs regular blood transfusions. Apart from that, iron chelation therapy needs to get rid of excess iron. 


Thalassemia Minor 

If a person has a mutant gene sequence in only one of its alleles, it will be called beta-thalassemia. The person is a heterozygote and doesn't show the symptomatic form of a disease carrier. The patient may have mild anemia because there is another allele to compensate for the effect. 


Beta-Thalassemia Intermedia

Symptoms of Beta-Thalassemia intermedia are milder than thalassemia major. The person presents the symptoms of thalassemia from the age of 2. The physiological changes include hepatomegaly, splenomegaly, and skeletal deformations. They may require a blood transfusion. 


Mutations in Beta Thalassemia


Regarding the prevalence of most common beta-thalassemia mutations, IVS-1-5 is the most common mutation in the 5th nucleotide of the 1st intron, G is replaced by C at this position. FSC 8/9 is the second most common mutation, it is a frameshift mutation. Another common mutation is FSC 41/42, 619 bp deletion is most common in Asian countries. 


Treatment of Beta-Thalassemia 

The only definitive and permanent treatment for beta-thalassemia is a bone marrow transplant. However, treatment requires an HLA donor or a suitable donor. Another drawback is that the procedure is costly and cannot be afforded by poor families. 

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