Background: Hemoglobin E/β-thalassemia is a common inherited hemoglobin disorder among South Asian countries. The phenotypically diverse presentation of the disease is often attributed to coinheritance of β-globin (HBB) gene mutations. The current study described the phenotype and genetic basis of Hb E/β-thalassemia patients and assessed its relation with clinical severity.Methods: A total of 32 patients were included in this cross-sectional study. Cases were confirmed by using capillary hemoglobin electrophoresis or high-performance liquid chromatography. Those with positive findings were further analyzed with clinical information and ancestral data either from the interview or medical records. Data collection was confined to May 2019 and July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.Result: A total of 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (n=17, 53.1%) was the most common, and codon 30 (G>C) (n=4, 12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% (n=12) were classified as phenotypically mild, 43.8% (n=14) as moderate and 18.8% (n=6) as severe. The IVS-1-5(G>C) mutation was found to be frequently associated with severe disease and showed no mild form.Conclusion: The present study described the clinical severity and its association with genetic mutations in hemoglobin E/β-thalassemia patients. This finding could guide individually tailored management strategies for this particular group of patients.
The COVID-19 pandemic has had a consequential impact on the global health system. Multisystem involvement is common in COVID-19. Many COVID-19 patients also showed changes in haematological parameters. This cross-sectional study included patients who attended the fever clinic of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh, with fever and/or upper respiratory symptoms. Demographic information, information regarding symptoms, exposure and comorbidities were collected. Complete blood count profile and C-reactive protein were done. Patients underwent RT-PCR for Covid-19 at the fever clinic. A total of 350 patients were included in the study. The study revealed that 21.4% of respondents were COVID-19 positive. PCR-positive patients were more likely to be symptomatic and had elevated C reactive protein levels. COVID-19 positive patients also showed higher total leucocyte, neutrophil, lymphocyte, eosinophil, basophil, and platelet count. BSMMU J 2022; 15(2): 75-79
Thalassaemia is a commonly occurring hereditary disorder. There is a high prevalence of thalassaemia disease in South-East Asia as well as Bangladesh. It is an autosomal recessive disorder, so consanguineous marriage is a very important factor for this disease. Mutated beta globin gene of haemoglobin from both parents is responsible for this disease to occur. But when the number of thalassaemia carriers is miserably high, then only avoidance of consanguineous marriage can’t prevent the birth of children with thalassaemia major. So, this cross sectional study was conducted among 120 diagnosed (by haemoglobin electrophoresis or high performance liquid chromatography) thalassaemia major patients in the Department of Haematology, Bangabandhu Sheikh Mujib Medical University, Dhaka from July 2019 to May 2020. History from each patient was taken and blood samples were collected from their parents to confirm carrier state by haemoglobin electrophoresis. Blood samples were also collected from patients and their parents toperform complete blood count and peripheral Blood Film. This study showed the mean age of the participants was 15±9.34 and 73 (60.8%) patients were male and 47 (39.2%) were female. About, 71% of the study population lived in urban area, 81 (67%) patients were transfusion dependent thalassaemia patients. 15% thalas- saemia major patients had the history of consanguinity of their parents. Among the parents of the thalassaemia major patients, 62.5% were Beta thalassaemia trait (heterozygous state), 25.83% parents were Hb E trait ( heterozygous state), 7.08% parents were suffering from Beta Thalassaemia Major(homozygous state) and 11 (4.58%) parents were suffering from Hb E/Beta Thalassaemia which is a compound heterozygous state. Though consanguinity is a very influential factor, but the most important causative factor is the presence of high number of thalassaemia carrier in the population. So, it’s a burning issue for the nation to perform a routine carrier screening for all rather than focusing on consanguinity only, to lessen the burden of thalassaemia disease in Bangladesh. BSMMU J 2022; 15(1): 25-28
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