Introduction

Hereditary diseases are caused by an abnormality in an individual’s DNA, abnormalities can be as small as single-base mutation in just one chromosome or involve the addition or subtraction of an entire chromosome. This kind of disorders include thalassemia and sickle cell anemia (SCA). Thalassemia is an inherited blood disorder characterized by low hemoglobin count and fewer red blood cells in the body, while in SCA there aren't enough healthy red blood cells to provide adequate oxygenation throughout the body. In Saudi Arabia, it has been estimated in 2017 that the total number of thalassemia and sickle cell anemia patients was 1,572140, representing 0.06% of the entire population of Saudi Arabia, with the Eastern Region being the highest in the number of cases of SCD and Thalassemia. According to Ministry of Health (MOH) of Saudi Arabia, premarital screening is defined as a number of tests targeting those that are planning to get married for common genetic blood disorders and infectious diseases such as SCA and thalassemia, hepatitis B and hepatitis C. The premarital screening (PMS) aims to give medical consultation on the possibility of transmitting such diseases to the other partner or children and to provide the couple with an informed decision for a heathy family (1, 2).

A research done in Saudi Arabia between 2004 and 2009 studied the regional differences in sickle cell disease and β-thalassemia using national data. The carrier and case status of sickle cell disease and β-thalassemia were determined in couples approaching marriage between 2004 and 2009 using standard blood tests. Based on the national data from the PMS program, the prevalence of SCD was the highest in the Eastern region (134.1 per 1000), followed by Southern and Western regions (55.6 and 28.5 per 1000, respectively) and lowest in Central and Northern regions (13.7 and 13.5 per 1000, respectively). The prevalence of β-thalassemia was highest in the Eastern region (59.0) followed by the Southern, Western and Central regions (14.2, 10.2, and 10.1 per 1000, respectively) and was lowest in the Northern region (3.9 per 1000). There are vast differences in hemoglobinopathies among adult Saudi nationals approaching marriage, this may help policy makers better allocate resources for preventive and management programs (3). Therefore, we aim to study the knowledge, attitude and practice of the public in the Eastern region regarding SCA and β-thalassemia.

Methodology

This is a cross-sectional survey study which was conducted in the Eastern Region of Saudi Arabia at different popular malls in Dammam and Khobar. The data was collected from July 2019 until September 2019. The data collection was through a simple randomization process with a total of 675 participants included in the study. The sample was taken from the general community attending these shopping malls. A total of six malls were chosen randomly in each geographical area. Two malls from Al-Khobar area, two malls from Dhahran area and two malls from Dammam area. Participants were selected using random sampling technique by taking every third person entering the mall. We included Saudi adults ?18 years and those living in the eastern region only and excluded individuals younger than 18 years, those in healthcare sector and incomplete data.

A structured questionnaire was used to collect the data in Arabic and English. The survey consisted of questions regarding demographic data, knowledge about premarital screening, law regarding PMS, diseases screened in PMS, attitude towards PMS and decisions about it and knowledge about inheritance of Sickle Cell Disease and Thalassemia. The questions were checked in the study setting for completeness and consistency by experts in community medicine and it was statistically validated. Data management included cleaning, coding, entry, analysis and presentation in tables and graphs and a correlation testing using chi square were done by Statistical Package for Social Sciences (SPSS) version 25. The ethical approval was obtained from the Research and Ethics Committee at the College of Medicine and Medical Sciences at the Arabian Gulf University (AGU). Official permissions to conduct the study were obtained from all the selected malls. An informed oral consent was taken from the participants prior to filling the questionnaire by the researchers, explaining to them the purpose of the research. Participants were assured of the confidentiality of the information they provided.

Results:

A total of 675 participants were included in the study. Out of those, the majority were females 393 (58.2%) and 274 (40.6%) of the participants were between 18-27 years old. About half of the participants (54.1%) were married while 40.7% were single and 50.8% of the population had children. Educational level of the participants varied but most of them (76.3%) had university degree and 19.9% had only high school degree. In regard to job distribution, 47.3% were employed, 24.1% were students, 20% were unemployed and 8.6% were retired (Table1).

The vast majority of participants, 645 (95.6%) thought that carrying out premarital screening is important. Similarly, 651 (96.4 %) agreed to carry out the premarital screening compared to only nine participants (1.3%) did not agree to carry out the premarital screening. Lastly, 81.6% knew about the law of compulsory PMS in Saudi Arabia (Table 2).

N: numbers

Analysis regarding the reasons to carry PMS showed that almost half (54.5%) of the participants agreed to take PMS to prevent transmission of disease to their offspring, 22.2% agree to prevent transmission of infectious diseases to themselves, 14.4% agree to ensure healthy state of the partner and 5.3% agree to ensure a healthy fitness for marriage (Figure 1).

Figure 1: Reasons for agreement to carry out premarital screening

When asked about the knowledge of the diseases for which tests are done in the premarital screening, 77.2% and 65.2% of the participants knew about the inclusion of SCA and β-thalassemia in PMS, respectively. In addition, 59.4% and 66.8% knew that hepatitis and autoimmune deficiency disease (AIDS) are included in the PMS (Table 3).

Results regarding relationship between the agreement of the participants to carry out PMS and the educational level showed that the educational level had a significant impact on the agreement to carry out PMS as the majority of the participants agreed to do PMS were highest among university graduates (98.1%) and lowest among intermediate school graduates (80.8%) (p-value 0.00) (Table 4).