Thalassemia

 

Thalassemia

Thalassemia  is an hereditary blood disorder caused when the body doesn’t take enough of a protein called Hemoglobin , the oxygen carrying protein inside red blood cells. The condition leads to the destruction of a large number of red blood cells.

It is a inherited hemoglobinopathies that results from the absence of globulin polypeptide chain synthesis. Thalassemia is highly prevalent in Southeast Asia, the Indian subcontinent, Mediterranean and Middle Eastern countries, collectively known as the ‘world thalassaemia belt’.

Genetics of Thalassemia:

Thalassemia results from mutations in the genes that code for hemoglobin subunits. Hemoglobin is composed of two types of globin chains: alpha (α) and beta (β). The disorder is classified based on which globin chain is affected.

       Alpha-thalassemia: Caused by mutations in the genes controlling the alpha-globin protein production. The severity depends on how many of the four alpha-globin genes are mutated .

When only one is affected it would show no symptoms, when two genes are affected it would show mild anemia, when three genes affected: severe anemia and when all of them are affected its fetal.

       Beta-thalassemia: Caused by mutations in the genes controlling the beta-globin protein production. The severity depends on how many of the two beta-globin genes are mutated.

When one gene is affected: mild anemia, when both genes are severely affected it would cause severe anemia which require regular blood transfusion.

Thalassemia is highly prevalent in Southeast Asia, the Indian subcontinent, Mediterranean and Middle Eastern countries, collectively known as the ‘world thalassaemia belt’.

              Thalassemia is classified into two types, a) Thalassemia major and b) Thalassemia minor . The disease is inherited in children if one of the parents becomes a carrier of this hemoglobin gene. If both parents are carriers, they have a 25% chance of having a thalassemia major child and a 50% chance of having children with thalassemia minor .

Birth of thalassemia major child can only be prevented by knowing which persons are carriers of thalassemia and avoiding marriage between carriers. Thalassemia is likely to be a major public health concern in the coming decades in South Asia. Despite the fact that Bangladesh lies in the world’s thalassemia belt, information on the number of thalassemia carriers, and different aspects (epidemiology, clinical course, mortality, complications, and treatment outcomes) of thalassemia carries are lacking. According to World Health Organization, α-thalassemia is more frequent in the WHO South-East Asia Region than in other parts of the world. Up to 40% of genetic traits have been found in thalassemia traits (1–30%). People living in the Mediterranean, African and South-East Asian regions are more likely to be affected by β-thalassemia. Genetic prevalence of β-thalassemia in the South-East Asia Region is 2.5–15% .  

In most developing countries the number of thalassemic children is expected to rise in the coming years with the decline in child mortality owing to better management of infectious diseases and malnutrition. In Bangladesh, 6–12% of the population (about 10–19 million people) are carriers of a gene causing thalassaemia. Every year, over 14,000 Thalassemia children are born in Bangladesh, with the condition affecting 10% of the general population and more than 30% of the tribal population (Thalassaemia: The Present and Future for Bangladesh | Daily Star, n.d.).

 

 Therefore, prevention is an important goal for developing countries with a high prevalence of thalassaemia. A number of intervention strategies are implemented in different countries for prevention of thalassaemia. These include mandatory pre-marital screening and genetic counselling (MPSGC), prenatal diagnosis (PND) with an option for termination of affected pregnancy. While some of countries (e.g., Cyprus, Italy, Greece, Turkey and Iran) have achieved high level of success (80–100%) in preventing the births of children with thalassemia . PND and therapeutic abortion are not routinely offered in some countries, because of cultural and religious restrictions. The application of PMCS is likely to bear enormous benefits in coping with the burden of congenital and inheritable genetic diseases.

    The laboratories technique that are used to diagnosis is Electrophoresis, which helps to diagnosis the presence and type of thalassemia with the help of hemoglobin of patients blood. DNA mutation testing provides critical insights into the genetic basis of thalassemia, which helps to identify specific genetic mutations responsible for this disorder.  

              Blood transfusion are the main way to treat moderate or severe thalassemia ,mostly the patient with beta thalassemia major This treatment gives you RBC with healthy hemoglobin . Iron chelation therapy is a crucial treatment for managing iron overload in patients with thalassemia who undergo regular blood transfusions. Since the body cannot naturally excrete excess iron, chelation therapy helps prevent the serious complications associated with iron accumulation, such as damage to the heart, liver, and endocrine glands.

        The number of thalassemia patients increases due to a lack of understanding, poor educational activities, lack of awareness of the cause, detection, transmission, and management of the disease, socioeconomic causes, religious choices, and cultural limitations. Thalassemia can be reduced through preventive health services, awareness, screening, prenuptial genetic counseling, and prenatal diagnosis in consanguineous marriages. So to prevent the birth of children with thalassemia we need to create awareness among high school and under graduate student, mostly the people around 16-21 year. We can create awareness though social media, workshop, seminar in community centers, educational videos, publishing articles in newspaper and magazine.