Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the production of quantitative and structural defects of the globin chain. α-Thalassemia, β-thalassemia, hemoglobin E (Hb E), and hemoglobin Constant Spring (Hb CS) are very common in Southeast Asian countries. Complex interactions of thalassemia and Hb variants are also common and affect the thalassemia diagnosis with several techniques including Hb typing and DNA analysis. A family study (family pedigree) is required in the proband with a complex interaction of several globin gene defects with rare types. Homozygous β-thalassemia, Hb E/β-thalassemia, and Hb Bart’s hydrops fetalis are severe thalassemia and these diseases have been concerned and included in the prevention and control program in several countries. Understanding the genotype-phenotype could help with the proper laboratory tests, genetic counseling, and effective treatment for the patients

A systematic review and meta-analysis of the global prevalence and relationships among Burkholderia pseudomallei sequence types isolated from humans, animals, and the environment

Background and Aim: Burkholderia pseudomallei, a highly pathogenic bacterium responsible for melioidosis, exhibits ecological ubiquity and thrives within soil and water reservoirs, posing significant infection risks to humans and animals through direct contact. The aim of this study was to elucidate the genetic diversity and prevalence patterns of B. pseudomallei sequence types (STs) across a global spectrum and to understand the relationships between strains isolated from different sources. Materials and Methods: We performed a systematic review and meta-analysis in this study. Extensive research was carried out across three comprehensive databases, including PubMed, Scopus, and ScienceDirect with data collected from 1924 to 2023. Results: A total of 40 carefully selected articles contributed 2737 B. pseudomallei isolates attributed to 729 distinct STs and were incorporated into the systematic review. Among these, ST46 emerged as the most prominent, featuring in 35% of the articles and demonstrating a dominant prevalence, particularly within Southeast Asia. Moreover, ST51 consistently appeared across human, animal, and environmental studies. Subsequently, we performed a meta-analysis, focusing on nine specific STs: ST46, ST51, ST54, ST70, ST84, ST109, ST289, ST325, and ST376. Surprisingly, no statistically significant differences in their pooled prevalence proportions were observed across these compartments for ST46, ST70, ST289, ST325, and ST376 (all p > 0.69). Conversely, the remaining STs, including ST51, ST54, ST84, and ST109, displayed notable variations in their prevalence among the three domains (all p < 0.04). Notably, the pooled prevalence of ST51 in animals and environmental samples surpassed that found in human isolates (p < 0.01). Conclusion: To the best of our knowledge, this study is the first systematic review and meta-analysis to investigate the intricate relationships between STs and their sources and contributes significantly to our understanding of B. pseudomallei diversity within the One Health framework

Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship

Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the production of quantitative and structural defects of the globin chain. α-Thalassemia, β-thalassemia, hemoglobin E (Hb E), and hemoglobin Constant Spring (Hb CS) are very common in Southeast Asian countries. Complex interactions of thalassemia and Hb variants are also common and affect the thalassemia diagnosis with several techniques including Hb typing and DNA analysis. A family study (family pedigree) is required in the proband with a complex interaction of several globin gene defects with rare types. Homozygous β-thalassemia, Hb E/β-thalassemia, and Hb Bart’s hydrops fetalis are severe thalassemia and these diseases have been concerned and included in the prevention and control program in several countries. Understanding the genotype-phenotype could help with the proper laboratory tests, genetic counseling, and effective treatment for the patients.</jats:p

Prevalence of familial hypercholesterolemia among the southern Thai population: A preliminary study

Abstract BackgroundFamilial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of FH among the Thai population has not been reported. This study investigated the prevalence of FH by using the low-density lipoprotein cholesterol (LDL-C) cutoff of the Dutch Lipid Clinic Network (DLCN), as well as the LDL-C cutoff of the US Make Early Diagnosis to Prevent Early Deaths (MEDPED) criteria.MethodsThis retrospective study used health checkup data from 2015 from the southern Thai population. A total of 1,480 participants (335 males and 1,145 females) aged 18–94-years-old from southern Thailand were enrolled in this study. Anthropometric, demographic, and biochemical data were measured. Additionally, FH was defined by using the DLCN and the US MEDPED criteria.ResultsWith the use of the DLCN, 7 subjects were identified as having probable FH, and the estimated prevalence of FH was 0.47% (1:211). By using the US MEDPED, 6 subjects were identified as having definite FH, and the estimated prevalence of FH was 0.41% (1:247). Most of the subjects with probable FH (71.43%) and definite FH (83.33%), as defined by the DLCN and the US MEDPED, respectively, did not take the lipid-lowering drug.ConclusionsThe prevalence of FH among the population in southern Thailand was between 1:211-1:247. Most FH subjects in Thailand may be underdiagnosed and undertreated. Thus, the early detection and treatment of FH should be implemented to prevent the development of cardiovascular disease.</jats:p

Thalassemia and Hemoglobin E in Southern Thai Blood Donors

Thalassemia and hemoglobin E (Hb E) are common in Thailand. Individuals with thalassemia trait usually have a normal hemoglobin concentration or mild anemia. Therefore, thalassemic individuals who have minimum acceptable Hb level may be accepted as blood donors. This study was aimed at determining the frequency of α-thalassemia 1 trait, β-thalassemia trait, and Hb E-related syndromes in Southern Thai blood donors. One hundred and sixteen voluntary blood donors, Southern Thailand origin, were recruited for thalassemia and Hb E screening by red blood cell indices/dichlorophenolindophenol precipitation test. β-Thalassemia and Hb E were then identified by high performance liquid chromatography and 4 common α-thalassemia deletions were characterized by a single tube-multiplex gap-polymerase chain reaction. Overall frequency of hemoglobinopathies was 12.9%, classified as follows: homozygous α-thalassemia 2 (1.7%), heterozygous α-thalassemia 1 (1.7%), heterozygous β-thalassemia without α-thalassemia (0.9%), heterozygous Hb E without α-thalassemia (5.2%), double heterozygotes for Hb E/α-thalassemia 1 (1.7%), homozygous Hb E without α-thalassemia (0.9%), and homozygous Hb E with heterozygous α-thalassemia 2 (0.9%). The usefulness of thalassemia screening is not only for receiving highly effective red blood cells in the recipients but also for encouraging the control and prevention program of thalassemia in blood donors