The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2%), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6%), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7%) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0%), Cd 26 (G>A) were 15 (75.0%), Cd 19 (A>G) were 1 (5.0%), and IVS 1-1 (G>T) were 2 (10.0%). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.
Anaemia among non-pregnant females of reproductive age remains a common public health problem globally, as well as in Sri Lanka. The objective of the study was to determine the prevalence of anaemia, asses the knowledge and the associated factors of anaemia among non-pregnant females of reproductive age in a tea estate community in Hantana, Kandy district, Sri Lanka. A descriptive cross-sectional study was conducted among 236 randomly selected non-pregnant females of reproductive age within the tea estate community belonging to two MOH (Medical Officers of Health) areas. The proportion of anaemia was determined by measuring haemoglobin (Hb) concentration using Mindray five-part automated blood analyser. The cut-off value to determine anaemia was set at 12.0 g/dL and respondents were categorized into three anaemia categories based on their Hb value. The common risk factors and knowledge regarding anaemia were assessed using a pre-tested interviewer administered questionnaire. Data was analysed with SPSS version 25. Chi-square test was used to conduct a bi-variate analysis. Prevalence of anaemia was 33.1%, among whom 53.8% had mild anaemia, 39.7% had moderate anaemia and 6.4% had severe anaemia. Anaemia was significantly associated with being employed, delivery of a baby within the past 4 years, advancing age, low income (less than 20,000 LKR) and prolonged menstrual bleeding for more than 3 days. Majority (58.5%) had poor knowledge regarding anaemia with a mean score of 5.69 (SD ± 2.42) out of 12. Since anaemia is a multifactorial condition it requires a combination of interventions such as health education and promotion activities. This study aids in assessing the prevalence of anaemia among estate workers identify the significant factors contributing to anaemia.