Thalassaemia

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Thalassaemia is the most common inherited gene disorder in the world and varies in different population groups in the world. With global improvement in childhood diseases, due to prevention and treatment with targeted programs to prevent mortality from malnutrition, diarrhoea & acute respiratory infections, thalassaemia will become a major issue in developing countries like Bangladesh in this millennium. World Health Organization (WHO) estimates that at least 6.5% of the world populations are carriers of different inherited disorders of Hemoglobin. It is predicted that when the world population finally stabilizes, at least 8.0% of the world population will be the carrier or trait of different types of thalassaemia syndromes & hemoglobinopathies.

The world population of carriers of beta thalassemia trait is reported to be more than 100-million worldwide and about 100,000 children with Thalassaemia major are born each year. Abnormal hemoglobin, called hemoglobin-E, which is quite common in Bangladesh no definite data regrading carrier status of the hereditary hemoglobin disorder exist.

No screening program had ever been taken in any population group. A conservative World Health Organization (WHO) report estimates that about 3.0% of populations are carriers of Beta thalassaemia and 4.0% are carriers of Hb-E in Bangladesh, which means that there are about 3.6-million carriers of beta thalassemia and 4.8-million carriers of Hb-E and affected birth per thousand of Beta halassemia is 0.106 & 3.000 of Hb-E/Beta thalassemia and affected birth per thousand of Beta thalassemia is 0.106 & 0.300 of Hb-E/Beta thalassemia. It is presumed that approximately six thousand thalassemic children are born each year in Bangladesh.

The birth of a thalassemic child could create a negative impact not only on the affected child and its family, but also to the whole community and country and the country’s economy as well, as because, without a healthy young generation, no country cannot advance forward.

All over the world, efforts are being made to prevent the birth of thalassemic children and to improve the quality of life those who are suffering. Thalassemia needs to be recognized as an important health issue in this country and necessary steps are needed to be taken to control the birth of thalassemic babies.

What is Thalassaemia?

Thalassaemia is an inherited (passed from parents to children through genes) blood disorder caused when the body doesn’t produce enough hemoglobin, which is an essential component of Red Blood Cells. When there isn’t enough hemoglobin, the function of body’s Red Blood Cells is dented  and their life span is shortened and for which,  there are fewer healthy red blood cells traveling in the bloodstream.

Red blood cells carry oxygen to all the cells of the body. Oxygen is a sort of food that the cells use to function. When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anemia. People with thalassaemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.

 

What are the different types of thalassaemia?

When we talk about different “types” of thalassaemia, we might be talking about one of two things: the specific part of hemoglobin that is affected (usually either “alpha” or “beta”), or the severity of thalassaemia, which is noted by words like trait, carrier, intermedia, or major.

Hemoglobin, which carries oxygen to all cells in the body, is made of two different parts, called alpha and beta. When thalassaemia is called “alpha” or “beta,” this refers to the part of hemoglobin that isn’t being made. If either the alpha or beta part is not made, there aren’t enough building blocks to produce  normal amounts of hemoglobin. Low alpha is called alpha thalassaemia. Low beta is called beta thalassaemia.

When the words “trait,” “minor,” “intermedia,” or “major” are used, these words describe how severe the thalassaemia is. A person who has thalassaemia trait may not have any symptoms at all or may have only mild anemia, while a person with thalassaemia major may have severe symptoms and may need regular blood transfusions.

In the same way that traits for hair color and body structure are passed down from parents to children, thalassaemia traits are passed from parents to children. The type of thalassemia that a person has, depends on how many and what type of traits for thalassaemia a person has inherited, or received from their parents. For instance, if a person receives a beta thalassaemia trait from his father and another from his mother, he will have beta thalassaemia major. If a person received an alpha thalassemia trait from her mother and the normal alpha parts from her father, she would have alpha thalassaemia trait (also called alpha thalassaemia minor). Having a thalassaemia trait means that you may not have any symptoms, but you might pass that trait on to your children and increase their risk of having thalassaemia.

Sometimes, thalassaemias have other names, like Constant Spring, Cooley’s Anemia, or hemoglobin Bart hydrops fetalis. These names are specific to certain thalassemias – for instance, Cooley’s Anemia is the same thing as beta thalassaemia major.

How do I know whether I have thalassaemia or not?

People with moderate and severe forms of thalassaemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with less severe forms of thalassaemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test or a test done for another reason.

Because thalassaemias are inherited, the condition sometimes runs in families. Some people find out about their thalassaemia because they have relatives with a similar condition.

People who have family members from certain parts of the world have a higher risk for having thalassaemia. Traits for thalassemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Asia, Africa, and the Middle East. If you have anemia and you also have family members from these areas, your doctor might test your blood further to find out if you have thalassemia.

How can I prevent thalassaemia?

Since it is a severe and incurable disease, emphasis must shift from the treatment of the affected child to prevention of this disease. All forms of thalassemia are transmitted hereditically. Identification of carriers of the thalassemia gene plays an important role in preventing this fatal, but preventable disease.

If you or your partner knows about family members with thalassaemia, or if you both have family members from places in the world where thalassemia is common, you can speak to a genetic counselor .

The following steps to be recommended and which are being followed in many countries :

 

  1. Creating awareness

Creating awareness via the print and electronic media can be very useful and the appropriate utilization of social media can be very helpful as well.  The government must also take steps to create awareness among the rural populations by involving thana health complexes and other different local organizations through different activities like seminars, symposium, publications etc. It is a very sad-affair that other than Dhaka, no facilities exist for the diagnosis of thalassemia in any other parts of the country.

 

  1. Population screening

Population screening  of such vast group of people is quite a hectic job, but a cheap and easily accessible screening method is available to detect the carriers.

“NESTROF {Naked Eye Single Tube Red Cell Osmotic Fragility) has been developed along with the morphology of red cells & red cell indices (MCV, MCH, RWD) for detection of beta-thalassemia trait & other hemoglobinpathies like Haemoglobin-E trait which is most common abnormal hemoglobin in Bangladesh and showed to be very effective in mass population screening.

It is done in India, Iran, Thailand and Iraq. In Iraq this screening method was applied in national survey to detect the carrier- state all over the Iraq .

This screening test for carrier detection is active in Bangladesh as well. A practical approach would be to perform NESTROF in an accessible way to the unmarried cohort of peoples like adolescents at school leaving or before starting college, or young adults starting a job or going to marry, must perform this screening HbA2 or Hb-E. By diagnosing and counseling thalassemia carriers, it becomes feasible and attractive alternative for prevention of thalassemic birth in our country.

 

  1. Genetic counseling

Genetic counseling needs to be given to thalassemia carriers and parents who have a thalassemic child. It should be not-directive and the counselor’s main role is to provide people at risk with full information; give them time for consideration and support them in making decisions.

Thank You

Faisal Caesar

 

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