β-thalassemia is an autosomal recessive single gene disorder characterized by defective production of hemoglobin and excessive destruction of Red Blood Cells. Hemoglobin is formed of four protein subunits, normally two α and two β. Genetic mutation in the gene encoding for β subunits of proteins, results in reduced or totally absent synthesis of β globin chain leading to the formation of abnormal hemoglobin or even to the absence of β hemoglobin. The defect causes an

abnormal development of Red Blood Cells and ultimately anemia [1]. Mainstay of therapy of thalassemia major is transfusion therapy and management of its complications. Hyper transfusion remains the most accepted regimen in most parts of the world in which the hemoglobin level above a minimum of 10 g% is maintained [2].

Only definitive therapy available for thalassemia major which gives permanent cure is bone marrow transplantation, which is available at very few centres and cost is very high and is about 50,000 USD in developing countries [3].

It has been estimated that more than 1,00,000 people are born every year all over the world with thalassemia and 10,000 in India alone. Prevalence of thalassemia in India is 3.3% in general population and 8-15% among certain communities and religions such as Sindhis, Punjabis, Khatris from North, Bengalis, Jains and Muslims. Prevalence of β thalassemia in Punjabis is 3.0-6.5%.

Incidence in children of Punjabi origin was 7.6% in Delhi in 2010 [4] [5] [6]. The cultural and religious scenario in Muslims, Khatris and Punjabis migrated from Pakistan is such that consanguineous marriages are quite common. There is no concept of premarital screening of counseling of individuals with a family history of disease. The concept of termination of pregnancy is an ethical and religious issue in some communities [7].

Improvement of quality of patient care, reinforcement of medical education and enhanced efforts by clinical staff to provide practical knowledge to patients with thalassemia major should significantly improve patient’s adherence to treatment [8]. The preventive measures have already been adopted successfully worldwide especially in Cyprus and Sardinia where the disease has almost been prevented.

Setting and Type of Study: The study was conducted in the Department of Paediatrics of Rajindra Hospital and Medical College, Patiala from January 2011 to November 2012. It is a cross-sectional study.

Sampling Method: Interview Technique was used to fill the predesigned and pretested proforma.

Sample Collection: Parents of 100 patients who were coming regularly to have blood transfusion from thalassemia day care centre run by Patiala Thalassemic Children Welfare Association at the Paediatrics Department of Rajendra Hospital, Patiala.

Inclusion Criteria: All the patients coming for regular blood transfusion in the centre from 0 yrs. to 15 yrs. of age and submitted the written consent to participate in the study.

Exclusion Criteria: Those patients who had not given written consent and are not coming for regular transfusion in the centre during the period of study.

Statistical Methods: The variables were compared by Chi Square Test and results so obtained were analysed using SPSS Version 15 and level of significance was determined as its ‘P’ value with P<0.05 taken as statistically significant.

Various levels are

• P>0.05 Non Significant
• P<0.05 Significant.

Ethical Consideration and Permission: was obtained from the Institutional Committee, Medical College Patiala.

Scoring System: The patients were divided into four groups according to age i.e. 0-4 years; 5-9 years; 10-14 years and 15 years and into five groups according to socio-economic status of the patients applying Kuppuswamy Scale. The patients were also divided into three groups on the basis of number of questions regarding knowledge correctly answered i.e. 0-5; 6-10 and 11-15.

Surgical Procedure: During the period of study, surgical procedure was adopted for Spleenectomy.

The key findings of the study as below:

there are 3 types of thalassemia Fifty seven percent of the parents knew the role of consanguinity. Seventy six percent of the parents knew about the prenatal diagnosis that could be performed to prevent the birth of thalassemic children.

Knowledge of the parents regarding importance of ferritin levels (p=.002), role of chelation therapy

(p=.018) and bone marrow transplantation (p=.033) was significantly related to the age of the patient.

Significant difference was found in the knowledge of parents in relation to geographical area. Knowledge regarding the disease and treatment option was more in parents from urban area.

BT – Blood Transfusion, DFP- Deferiprone, DFR- Deferasirox, DES- Desferrioxamine, BMT – bone Marrow Transfusion

Table 6 shows 38% patients were from upper lower and 21% from lower middle and 2% of patients were from lower class. Only 1% was belonging to upper class.

The table also reveals that 76% of the parents knew about prenatal diagnosis, 79% underwent prenatal diagnosis, 92% of parents were willing for abortion of thalassemia affected fetus, and 67% of the parents were adopting family planning methods.

Socioeconomic status-wise difference in attitude towards prenatal diagnosis (p=.001) was statistically significant.

Table -6: Attitude of Parents towards Prevention of Disease in Relation to Socioeconomic Status (SES).

SES wise difference in attitude towards Prenatal diagnosis was found to be statistically significant.

Table 7 shows that 41% of the patients were from Khatri community and 59% were from other communities. It depicts that knowledge regarding the treatment options available was found more in parents from Bania, Khatri and Kamboj communities.

Table 8 shows that 97% of children were coming for regular follow up, 73% of them were getting ferritin levels monitored, 74% were using chelating agents, 51% were using deferasirox, 19% deferiprone and only 1% was using desferrioxamine.

More positive attitude of parents towards prevention of thalassemia was found in parents who have

Figure 1 shows that Maximum number of parents who were coming for regular follow up, monitoring ferritin levels of their children, whose children were using chelating agents and were screened for HIV, HBsAg and HCV i.e. 48.5%, 56.2%, 56.7%, 51.2%, 58.8%m 60% were parents who gave 6-10 correct answers. Also 100% i.e. 21/21, 80.9% i.e. 17/21, 90.5% i.e 19/21, 85.7% i.e 18/21, 71.4% i.e 15/21, 66.7% i.e 14/21 of parents who gave 11-15 correct answers regarding disease knowledge were coming for regular follow up, monitoring ferritin levels of their children, using chelating agents and getting their children screened for HIV, HBsAg and HCV respectively. So relation of knowledge and treatment adherence was found statistically significant.

Figure-1: Treatment Adherence of the Parents in Relation to Their Disease Knowledge

years, 13% were >15 years. In other studies done by Shukr et al (2011) and Ishaq et al (2012) mean age of the patients was 9.5 years. There is no data available in literature to make age group wise comparison. (Table 1) [10] [13].

In our study, 43% of the patients were from rural area and 57% were from urban areas. There is no study available in literature to make geographical distribution wise comparison. (Table 2)

A study conducted by Upadhyay and Chatterjee (2009) shows similar results where 80% of the patients were diagnosed by the age of 3 year. This shows that maximum number of patients of thalassemia major became symptomatic in infancy and the rest in 1st 3 years of life. (Table 3) [14].

In our study, family history of thalassemia was present in 23% of the cases and history of consanguineous marriages was present in 4% of the cases. Naseri et al (1997) in their study on status of thalassemia in Iran also reported that 66% of thalassemic children had consanguineous parents. The difference being due to the fact that consanguinity is high in Muslims. (Table 4) [15].

In our study 76% of the parents knew about prenatal diagnosis. This is in concordance with study done by Ishak et al (2012) which reported that 76.5% parents knew about prenatal diagnosis[13].

In our study 51% of the parents knew that this disease is manageable. 77% of parents knew that blood transfusion is needed for growth of the child and to maintain hemoglobin levels and 61% of the parents knew the role of ferritin levels. Sixty of the parents knew role of chelation therapy, 43% knew the option of deferiprone (Kelfer). (Table 5)

In this study majority of the parents belonged to middle class. This finding is not in concordance with a study done by Arif et al (2008) where majority of the parents were from low socioeconomic status[7].

In the present study 32% of the parents underwent prenatal diagnosis.Similar results were found in study done by Shukar et al (2011) [10].

In this study 92% of the parents were willing for abortion of thalassemia affected pregnancy. Similar results were shown in studies of Ahmad (2007) where majority of the parents and Karimi et al (2010) where 86.7% of the parents were in favor of termination of the affected foetus.

In our study majority of the parents were willing for termination of pregnancy with affected fetus

psychosocial problems. Canatan et al (2003) reported that education of 60% of thalassemic children of school age was affected. 82% of the parents had anxiety[18].

The recent emergence of oral iron chelation therapy (with deferiprone) has helped to lessen the burden of desferrioxamine infusion and thus is improving compliance Zahed et al (2002). (Table 9) [19].

Figure 1 shows the division of parents giving correct answers for knowledge questionnaire into three groups i.e. 1st giving 0-5 correct answers, 2nd giving 6-10 correct answers, 3rd included parents who gave 11-15 correct answers. Then the knowledge was correlated with treatment adherence.

Maximum percentage of parents who gave 11-15 correct answers, were monitoring ferritin levels of their children, giving chelating agents to their children, getting the screening for HIV, HBsAg, HCV done.

Relation between the treatment adherence and knowledge of the parents was found significant with p values = .001, .000, .000, .000 regarding monitoring of ferritin levels, use of chelating agents, screening for HBsAg and HCV.

This is in concordance with study done by Lee et al (2009) the score for the patient’s disease knowledge about thalassemia major was positively correlated with follow-up visit adherence (p<0.001) and with desferrioxamine infusion adherence (p<0.001).

The following conclusions are drawn regarding the present study:-

• There should be a community based educational efforts to increase awareness of this problem especially to the people from low socioeconomic class and from rural area.
• Organizing regular awareness programmes and genetic counseling among high risk communities to inform them the salient facts about thalassemia, its hereditary nature, treatment and preventive possibilities is required. involvement of mass media is needed to achieve this goal.
• Premarital screening programmes aimed at identifying carrier individuals before marriages may be more effective and culturally acceptable among our communities as compared to