Cross-sectional study on knowledge, attitude and practice towards thalassaemia among Indonesian youth

IntroductionThalassaemia is an inherited blood disorder, for which definitive treatments remain largely inaccessible. The recommended approach to reduce the disease burden is by prevention through screening. Currently, the implementation of thalassaemia preventive measures is poorly regulated in Indonesia. Thalassaemia prevention and education are best targeted to the youth, but information on their awareness towards thalassaemia is limited. This study aims to investigate the knowledge, attitude and practice (KAP) towards thalassaemia among Indonesian youth.MethodsThis observational study took place between January and May 2021. An online questionnaire was disseminated to Indonesian youth aged 15–24. Eligible respondents included carriers, unaffected individuals and individuals with unknown carrier status. The questionnaire comprised 28 questions to assess KAP. A cut-off of 75% was used to categorise participant’s KAP into poor or negative and good or positive. Descriptive statistics, χ2 test, logistic regression and Pearson correlation were performed for data analysis.ResultsA total of 906 responses were gathered, and 878 were analysed. Most respondents had poor knowledge (62.1%), positive attitude (83.3%) and poor practice (54.4%) towards thalassaemia. The results implied that respondents had limited understanding regarding the types of thalassaemia and the difference between asymptomatic carriers and individuals without the thalassaemia trait. Many (82.6%) believed they were not carrying thalassaemia trait despite the fact that most (95.7%) never got tested. Age, education, gender, residence and family income were key factors that correlated with or predicted the youth’s KAP towards thalassaemia. Older respondents and women were more likely to have good KAP.ConclusionThalassaemia screening targeted to the youth is urgently needed, and future interventions must consider sociodemographic factors that may affect how they perceive the disease. Social media appeals to the youth as an important source of information, but school, parents and health professionals should also be involved in delivering education about thalassaemia.

A Novel Algorithm Using Cell Population Data (VCS Parameters) as a Screening Discriminant between Alpha and Beta Thalassemia Traits

Thalassemia is one of the major inherited haematological disorders in the Southeast Asia region. This study explored the potential utility of red blood cell (RBC) parameters and reticulocyte cell population data (CPD) parameters in the differential diagnosis of α and β-thalassaemia traits as a rapid and cost-effective tool for screening of thalassemia traits. In this study, a total of 1597 subjects (1394 apparently healthy subjects, 155 subjects with α-thalassaemia trait, and 48 subjects with β-thalassaemia trait) were accrued. The parameters studied were the RBC parameters and reticulocyte CPD parameters derived from Unicel DxH800. A novel algorithm named αβ-algorithm was developed: (MN-LMALS-RET × RDW) − MCH) to discriminate α from β-thalassaemia trait with a cut-off value of 1742.5 [AUC = 0.966, sensitivity = 92%, specificity = 90%, 95% CI = 0.94–0.99]. Two prospective studies were carried: an in-house cohort to assess the specificity of this algorithm in 310 samples comprising various RBC disorders and in an interlaboratory cohort of 65 α-thalassemia trait, and 30 β-thalassaemia trait subjects to assess the reproducibility of the findings. We propose the αβ-algorithm to serve as a rapid, inexpensive surrogate evaluation tool of α and β-thalassaemia in the population screening of thalassemia traits in geographic regions with a high burden of these inherited blood disorders.

Thalassaemia genes in Baghdad, Iraq

To estimate the prevalence of thalassaemia genes in Baghdad, a study was made of 502 randomly selected pregnant women attending a major maternity care clinic in the city. A reduced mean corpuscular volume [MCV] of < 80 fl was used as a screening test for thalassaemia in this population, followed by a battery of tests, including haemoglobin analysis and iron studies, to confirm the diagnosis. Using this approach, 22 cases were diagnosed of beta-thalassaemia trait, five cases of alpha-thalassaemia trait and one case of delta beta-thalassaemia trait. Based on these figures the estimated prevalence rates of beta-, alpha- and delta beta-thalassaemia traits in Baghdad, would be 4.4%, 1.0% and 0.2%, respectively. The study also includes a discussion of the above findings in the context of those reported in other neighbouring countries

PARATHYROID STATUS AND ITS ASSOCIATION WITH HAEMOGLOBINOPATHIES AMONG TYPE 2 DIABETES MELLITUS IN SOUTHERN NIGERIA

Background: Endocrine action is integrative and an endocrine dysfunction of one gland is known to affect other endocrine glands. Parathyroid glands are associated with the beta cell function. Thus, insulin resistance observed in type 2 diabetes mellitus (T2DM) may be associated with alterations of parathyroid hormones and their metabolic pathways. These have been reported to have a genetic root, postulated to be aberrant haemoglobin gene resulting in haemoglobin variants. This has not been fully explored in sub-Saharan Africa, which has significant population of haemoglobin variants. Aim: The aim of this study was to evaluate the status of parathyroid dysfunction and its association with haemoglobinopathies among Sub-Saharan Africans with type 2 diabetes mellitus. Method: A total of 204 individuals aged 25 – 80 years which comprised 100 T2DM and 104 Controls without T2DM were enrolled from a tertiary hospital, in Ibadan, Nigeria and environs.10mL intravenous blood was obtained from each participant. Parathyroid Hormone (PTH) was measured using enzyme linked immunosorbent assay (ELISA). Calcium, Phosphate, Albumin and Fasting Plasma Glucose (FPG) were analysed spectrophotometrically. Haemoglobin A2 (HbA2), Haemoglobin A (HbA), Haemoglobin C (HbC) and Haemoglobin S (HbS) and Glycated haemoglobin (HbA1c) were determined by High Performance Liquid Chromatography (HPLC) method using Variant Haemoglobin Testing System (Bio-Rad Variant II). Data analysed using appropriate statistical analysis were significant at p<0.05. Results: Normal parathyroid function, hyperparathyroidism and hypoparathyroidism were present in 93% vs 96%, 3% vs 0.96% and 4% vs 6.73% in T2DM and controls respectively. T2DM and controls with AA and Non AA had 62% vs 31% normoparathyroidism, 3% vs 0% hyperparathyroidism and 2% vs 2% hypoparathyroidism respectively. The association between parathyroid gland disorder in T2DM and controls with the various haemoglobin variants was not significant (p>0.05) but the difference between parathyroid function in the control group with and without Beta Thalassaemia Trait was significant (p<0.05). Conclusion: Hypoparathyroidism and hyperparathyroidism were revealed in Type 2 Diabetes Mellitus and control individuals with haemoglobin genotype AA (HbAA). Hypoparathyroidism was also found among controls with Beta Thalassaemia Trait. Timely identification of these disorders may be helpful in appropriate therapeutic regimen to facilitate bone growth, prevent fractures and complications of parathyroid gland in these individuals. KEYWORDS: Haemoglobin Variants, Parathyroid Dysfunction, Type 2 Diabetes Mellitus (T2DM).

Evaluation of Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) in Screening and Diagnosis of Beta Thalassaemia Trait in Pakistani Population

Background: Beta thalassaemia is an inherited disease that is a cause of continuous burden on the affected families and the society. The objective of the study was to evaluate the efficacy of Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) for the detection of beta thalassaemia trait when used for the screening in Pakistani population. Methods: All participants requesting a complete blood count were included in the study. Informed consent was obtained. Naked Eye Single Tube Red Cell Osmotic Fragility Test was performed with freshly prepared 0.36% buffered saline. Turbidity in the tubes was an indication for individuals to be positive for beta thalassaemia trait. Hemoglobin electrophoresis was performed on all positive cases to confirm the sensitivity and the reliability of the screening test. Chi-Square test was used to test for any significant correlation between the different hematological parameters and other variables. Results: A total of 812 patients were included in the study from January 2017 to June 2017. The mean age of participants was 35.5 + 13.6 years. There were 351 (43.2%) male and 461 (56.7%) female participants. A 100% Naked Eye Single Tube Red Cell Osmotic Fragility Test sensitivity was obtained with 65 (8%) positive cases having HbA2 levels of more than 3.2% indicating their true positivity whereas, all 747 (92%) negative cases having HbA2 levels of less than 3.2% indicating their true negativity. Conclusion: NESTROFT was found and a rapid screening test for the identification of carriers of beta thalassaemia trait in our population.