Wed. Mar 29th, 2023

Thalassemia, a preventable disease yet taking a toll in our population

Hamza Wasif

Thalassemia is the group of inherited heterogeneous disorders which results in life threatening conditions, mainly anemia and requires regular blood transfusions in a patient in order to survive. It is a condition in which a single genetic disorder for e.g. thalassemia is caused by multiple numbers of same abnormal genes. Among all the other hemoglobin disorders B- thalassemia is the second most common haemoglobinopathies (a kind of genetic imperfection that results in abnormal structure of one of the globin chains of the hemoglobin molecule- a protein in red blood cells which contains iron). It is mainly associated with people of Mediterranean, Indian subcontinent & Middle East regions. The World Health Organization has identified different strategies to control haemoglobinopathies which mainly includes B-Thalassemia in developing countries. According to a local research, every year estimated 5000-9000 children are born with B-Thalassemia worldwide but no registered document is available in Pakistan. Carrier rate is estimated up to 5-8% or 9.8 million from the total population are carriers of thalassemia.

Pakistan tends to be among the countries having high rate of B-Thalassemia prevalence, but still there is a lack of screening program for its prevention. In Pakistan the pattern of marriage inspires consanguineous and other relative marriages which cause increase in genetically transferred diseases including thalassemia. Having around 10 million carriers of thalassemia it poses a major threat on health sector economy of Pakistan and is also concerned with major morbidity and mortality. Therefore the most cost effective strategy to combat such dilemma is prevention and screening of the couple before getting married or during pregnancy. In this way possible consequences can be discussed with the couple in a timely manner.

Premarital screening has been implemented in various countries where thalassemia prevails and it has proved to be beneficial in terms of thalassemia prevention, morbidity and mortality caused because of it. Countries having common religion like Pakistan have also implemented the premarital screening program and has benefited from them as for example a study conducted in Saudia discuss the same implication in their study. In order to conceive an effective screening program it is very important to know about the knowledge and attitude of the people regarding the screening of thalassemia before getting married to avoid transmission in future generations or importance of it during pregnancy to avoid morbidity and mortality caused by the disease.

There are studies conducted in Pakistan to evaluate the knowledge and their attitude towards the disease. In one of the studies, awareness of the parents of Thalassemia major patients was evaluated about premarital screening and consanguineous marriages in disease transmission and of prenatal detection of the disease. The study concluded that more than half of the respondents were aware of the disease and its mode of transmission which included more of the literate people. Many of them knew about the importance of premarital screening and prenatal diagnosis and abortion but religious and cultural beliefs played a major role to be the constraint in implementing such programs. Keeping in mind the insufficient familiarity with the disease there is a great need of public health education in order to decrease the disease morbidity ratio.

Another study conducted in Pakistan in order to identify knowledge of B-Thalassemia and premarital screening and their attitude towards the program of randomly selected six medical universities. The study was conducted before and after imparting the knowledge about the disease. The study shows only half of the students who were selected for the study knew about B-Thalassemia despite being the medical students, however most of them were aware of premarital screening but despite of that most of them didn’t respond in the favor of pre marital screening. Keeping in mind the low background knowledge of the disease it clearly indicated the necessity of corpus awareness campaign and putting into practice of a premarital screening program.

There are NGO’s in Pakistan who are working on prevention of Thalassemia in future generations and also for the treatment of thalassemia in children. In Pakistan expected year of life probability in children is 10-12 yrs. For optimum management of the disease adequate blood transfusion and other procedures are required. This costs $3000/thalassemia child annually, whereas average income in Pakistan is $100/month. Therefore total spending on thalassemia management is very high.

There are different ways by which Thalassemia can be prevented. First and the most important strategy is mass education. It can be done through media, seminars, symposium, community health education (CME) and training of general practitioners (GPs), obstetricians, pediatricians, nurses, social workers.

Incorporating information regarding the genetically transmitted diseases in school curriculum is important to spread knowledge regarding the disease and its transmission.

The other strategy is mass screening, although in the country like Pakistan it’s not possible to screen the entire population but it can be done in the following way:
• Pre-marital screening: screening should be made mandatory before marriage in order to prevent two carriers to get married which can cause the birth of diseased child.
• Screening of school going children: it will help in diagnosis of early carriers to prevent further transmission by avoiding intermarriages.
Screening of the mother at the time of pregnancy booking: it should be made mandatory for certain diseases to rule out the prognosis of pregnancy and chances of having a child with the diseases which can be transmitted from the mother to the fetus. Prenatal (before birth) diagnoses play an important role in identifying thalassemia major cases in 1st and 2nd trimester of pregnancy, and if it proves to be positive the pregnancy can be terminated to avoid the birth of Thalassemia major infant.
Prevention strategy like prenatal diagnosis and termination of pregnancy is vital to control the disease progression in the population, but religious support is vital in this case as there are constraints regarding termination of pregnancy because of which people tend to avoid it.

Instagram did not return a 200.
%d bloggers like this: