Beta thalassemia is one of the most common single-gene inherited condition in the world.¹Thalassaemia major is an inherited blood disorder, which can be defined as "the inability of the human body to produce sufficient amount of hemoglobin in red blood cell" thus resulting in severe anaemia.²

Various studies show that around 70,000 infants are born with beta thalassemia worldwide every year, and 270 million people are carriers of haemoglobinopathies.³ Due to its high prevalence, Thalassemia is a public health problem worldwide, which is particularly common in the Mediterranean as well as in Southeast Asia, Africa and Middle East¹ with reported rates ranging from 2 to 25%.⁴

With the high disease burden of thalassemia, low socioeconomic conditions and poor preventive strategies, our patients are left with no other option except the repeated blood transfusion, which inadvertently results in high chances of infections like hepatitis B and C, iron overload and other immunological responses.⁵ This affects the patient’s physical, emotional and school functioning leading to an impaired quality of life and also causes tremendous financial burden to their families.⁶

The definitive cure of thalassemia is bone marrow  transplant, this facility is available only in very few centers in India. So prevention is the only way to reduce the burden of disease in thalassemia. The main prevention strategies comprise of providing appropriate information to the public and professionals, screening and counseling of families at risk and screening of couple prior to marriage.⁷

The Policy For Prevention and Control of Hemoglobinopathies –Thalassemia, Sickle Cell Disease and variant Hemoglobins in India (by Ministry of Health and Family Welfare), 2018, encompasses the vision to enable access to affordable and quality care to all patients with Thalassemia, HbE and Sickle Cell Disease, and also to lower the prevalence of hemoglobinopathies through awareness and screening programs.⁸

The purpose of this study is to assess the awareness about thalassemia major disease among parents with thalassemia children and to identify the gap in knowledge about β-thalassemia among the parents of beta thalassemia children. So that it will be helpful to reduce the burden of the disease in the society in the near future.

MATERIALS AND METHODS

This cross sectional descriptive study was conducted over a period of 3 months (from  July 2023 to September 2023)  among  65 parents of beta thalassemia major children attending department of Pediatrics, Gulbarga institute of Medical sciences, Kalaburagi .The study was conducted after obtaining the ethics committee approval from Institutional Ethics committee. Informed consent was obtained from all eligible participants after explaining the objectives and nature of this study in their own language. A semi structured pre-validated questionnaire designed to assess the Knowledge in relation to beta thalassemia major disease was administered to all the parents fulfilling the inclusion criteria. The data collected through this questionnaire includes: socio demographic details of parents and children and various information to assess the knowledge of parents with respect to thalassemia major disease like, about nature of the disease, about premarital screening, prenatal diagnosis, genetic counseling, iron chelation therapy and importance of  hepatitis B vaccination.

Statistical data was analyzed by using statistical package for social sciences (SPSS, version 25.0). If p value is <0.05, it is considered as statistically significant.

RESULTS

Table 1: Socio Demographic profile of study participants

In the study, the mean age of participants was 33.84 years. Majority of participants 31 (47.7%) were belonging to the age group of 31 to 40 years, The male (father) participants were 36 (55.4%) and female (mother) participants were 29 (44.6%). Majority of participants 45 (69.2%) residential area was rural.

Majority of participants 38 (58.5%) were belonging to the socio-economic status of lower class, followed by 24 (37.0%) were belonging to lower middle class and 3 (4.5%) of the participants were belonging to middle class, no participants were seen in upper middle class and upper class.  

Out of 65 participants; 22 (33.8%) participants were illiterate, 13 (20.0%) had primary education and 30 (46.2%) had secondary and degree education. Majority of participants 38 (58.4%) were daily wage workers.

Table 2: Knowledge of participants regarding Thalassemia major

Table 2 shows Knowledge of participants regarding thalassemia. None of the participants had knowledge about thalassemia before their first child was born. when the participants are asked about cause of thalassemia, majority of them 50(76.9%) said that it is a genetic/Inherited disorder and 15(23.1%) said that they don’t know what causes thalassemia.

Fig 1: Participants knowledge with respect to treatment options for Thalassemia Major

when the participants were asked for treatment options of thalassemia, 29(44.6%) said both blood transfusion and bone marrow transplant,28(43.1%) said only Blood transfusion and 8(12.3%) did’nt know any of the treatment options for thalassemia. About 34(52.3%) participants didn’t know the role of consanguinity in thalassemia. 49(75.4%) didn’t know about premarital screening and 33(50.8%) didn’t know about prenatal diagnosis. All of them knew that blood transfusion is needed to the thalassemia major patient throughout life.

Majority of them 46(70.0%) didn’t know the reasons and risk factors of thalassemia and 19(29.2%) knew that Positive Family history is a risk factor for thalassemia.

About 28(43.1%) didn’t have any knowledge about iron overload because of repeated transfusions in thalassemia. About 34(52.3%) didn’t know about iron chelation therapy in thalassemia, About 28(43.1%) didn’t  know about the risk of getting Hepatitis B because of repeated  transfusion and 55(84.6%) didn’t know about Hepatitis B vaccine.

When the participants were asked about prevention methods of thalassemia, 33( 50.8% ) didn’t know any of the prevention methods,  15 ( 23.1%)  said genetic counseling, 24(36.9%) said premarital screening and  30(46.1%) of  them  said prenatal diagnosis as the methods to prevent thalassemia.

DISCUSSION

Thalassemia is a hereditary hemoglobinopathy and a chronic disorder so prevention of thalassemia is utmost important aspect to reduce the burden on society, for these social scientists, doctors and counselors should play a major role in prevention. Usually government hospital of tertiary level in all states are often over-crowded with these patients and  parents of these thalassemia patients needs  to be counseled and sustained motivation  to parents of children suffering from thalassemia is often needed. Doctors and counselors  should focus on  to serve these  people from  simple infections to long lasting chronic illnesses. Government should take initiation to give enough support in providing counselors for  these disorders.¹⁰

In our study, Majority of participants 31 (47.7%) were belonging to the age group of 31 to 40 years, The male (father) participants were 36 (55.4%) and female (mother) participants were 29 (44.6%). Majority of participants 45 (69.2%) residential area was rural. In the current study, we had a slight male preponderance of Thalassemia with 41(63.1%) males and 24(36.9%) females. A study by Goyal JP A et al, and Saxena A et al, showed a male preponderance similar to in this study.^11,12 However, the study conducted in Pakistan by Arif F et al, showed a slight female preponderance.¹³

In this study, None of the participants had knowledge about thalassemia before their first child was born. In this study, 76.9% study subjects knew and understood the genetic nature of Thalassemia. This knowledge was better than that in the studies conducted  by Biswas B et al, (47.6%), Saxena A et al, (47.5%) but lesser than the study conducted by Arif F et al, (82%).^12,13,14. Majority of them,70.0% didn’t know the  reasons and risk factors of thalassemia and 29.2% knew that Positive Family history is a risk factor for thalassemia.

In our study,44.6% of the participants knew that both blood transfusion and bone marrow transplant are the treatment options for thalassemia major,43.1%  knew only Blood transfusion as the treatment option ,12.3%  did’nt  know any of the treatment options for thalassemia. Where as in the studies conducted by Saxena A et al, 62.5% knew about the need of blood transfusion and  in the study conducted by  Biswas B et al, only 75.9%  knew. ^12,14 About 52.3% participants didn’t know the role of consanguinity in thalassemia. In our study, about 75.4% participants didn’t know about premarital screening and 50.8% didn’t know about prenatal diagnosis. Where as in the study conducted  by Biswas B et al , 52.4% and 50.9% knew about premarital counseling and antenatal screening, respectively.¹⁴

 In our study, about 56.9% had knowledge about iron overload because of repeated transfusions in  thalassemia and 47.7%  knew about iron chelation therapy in thalassemia . In the study by Goyal JP et al, most of them knew about iron overload.¹¹ comparatively better results were seen in the study conducted  by Kalraa RK et al where 100% knew about the reactions to the blood being transfused  and 100%  knew  that iron overload could be a potential complication of repeated transfusions and 100% subjects knew that iron chelation therapy is needed for the treatment. ¹⁵ About 56.9% knew about the risk of getting Hepatitis B because of repeated  transfusion and 15.4%  knew about Hepatitis B vaccine. Where as in the  study conducted  by Kalraa RK et al 100% subjects knew the importance of  hepatitis B vaccination  in chronically transfused  patients.¹⁵

From our study, it was found that, knowledge of the parents regarding the cause, course, complications ,management  and prevention of Thalassemia is not adequate. This emphasizes the need for such a social worker/counsellor to be associated with every Thalassemia day care center so that  it helps in creating awareness regarding this disease in the parents.

CONCLUSION

It was seen from our study that parents don’t have adequate knowledge related to thalassemia major disease prevention and treatment; Health education and periodic counseling of parents and care takers about prevention of thalassemia needs to be implemented at every thalassemia day care centre. Dedicated social worker/counsellor should be associated with every thalassemia day care centre to counsell the parents and care takers of thalassemia major. And it is better to have a child psychologist in the thalassemia day care centre to take care of mental health of thalassemia major children.

ACKNOWLEDGEMENT

Authors acknowledge the help received from scholars whose articles have been cited and included in references of this manuscript.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: The study was approved by the Institutional Ethics Committee.

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