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Key Determinants of Phenotypic Heterogeneity of Hb E/? Thalassemia: A Comparative Study from Eastern India.

ABSTRACT: HbE Beta thalassemia is phenotypically very diverse disease. We aim to study role of various genetic factors in determining severity of this disease. 243 diagnosed cases of HbE Beta thalassemia were included in this study. Patients were divided in two arms-transfusion dependent and non-transfusion dependent arms. Various factors (percentage of haemoglobin F, hemoglobin E, type of Beta mutation, Xmn1 polymorphism, alpha deletion, HPFH mutation) were evaluated in these patients. Xmn1 polymorphism (homozygous and heterozygous), presence of HPFH mutation and alpha deletion were more prevalent in NTDT arm versus TDT arm (p value?p value?p value?

SUBMITTER: Kalantri SA

PROVIDER: S-EPMC7042442 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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Key Determinants of Phenotypic Heterogeneity of Hb E/β Thalassemia: A Comparative Study from Eastern India.

Kalantri Siddhesh Arun SA Ray Rudra R Choudhuri Soumita S Roy Swarnalata S Bhattacharyya Maitreyee M

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 20190906 1

HbE Beta thalassemia is phenotypically very diverse disease. We aim to study role of various genetic factors in determining severity of this disease. 243 diagnosed cases of HbE Beta thalassemia were included in this study. Patients were divided in two arms-transfusion dependent and non-transfusion dependent arms. Various factors (percentage of haemoglobin F, hemoglobin E, type of Beta mutation, Xmn1 polymorphism, alpha deletion, HPFH mutation) were evaluated in these patients. Xmn1 polymorphism ...[more]

PMID: 32158094

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Economic burden of beta-thalassemia/Hb E and beta-thalassemia major in Thai children.

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| S-EPMC2835719 | biostudies-literature

Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.

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<i>BCL11A</i> Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity.

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The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity.

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| S-EPMC2845123 | biostudies-literature

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Mitochondrial Changes in ?0-Thalassemia/Hb E Disease.

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Genetic predictions of life expectancy in southern Thai patients with β<sup>0</sup>-thalassemia/Hb E.

Project description:The types of β-thalassemia mutations, α-thalassemia interactions, and Hb F-associated SNPs have been described in association with variable disease phenotypes. This study aimed to determine the updated spectrum of β-thalassemia mutations and evaluate the contribution of primary and secondary genetic modifiers and SNPs to disease severity, age at onset, and predicted life expectancy in southern Thai β-thalassemia patients. A total of 181 β-thalassemia patients were enrolled and 135 β0-thalassemia/Hb E patients without α-thalassemia interactions were divided into three categories according to disease severity, age at onset, and predicted life expectancy. A total of 16 β-thalassemia mutations were identified in this study, and the three most common β-thalassemia mutations accounted for 61.4% of all mutations. It was also found that the XmnI polymorphism and rs2071348 were associated with age at onset and the predicted life expectancy. More than 82% of β0-thalassemia/Hb E patients with CC genotype (XmnI) were 3 years old or younger at onset. Additionally, >90% of the higher predicted life expectancy in β0-thalassemia/Hb E patients had the T allele of XmnI. Therefore, genetic prediction for age at onset and life expectancy is beneficial and practical during prenatal diagnosis or newborn screening for better genetic counseling and optimal management.

| S-EPMC9112403 | biostudies-literature

Survey data on heterogeneity in consumers' food choice in eastern India.

Project description:A consumer survey was conducted in eastern India in 2017 to understand the heterogeneity of consumers' food choice. Face-to-face interviews were conducted among urban and rural consumers from low- and middle-income households in Odisha and West Bengal, eastern India, using a structured questionnaire. A multi-stage sampling procedure was implemented with stratified random sampling as the first stage and systematic sampling as the second stage. The survey data comprise responses from 501 respondents who have active involvement in grocery purchase decision-making and/or in meal planning or cooking for the household. The survey generated a dataset that was used to unravel five sources of heterogeneity (5Ws) in gastronomic systems that affect consumers' diets: (i) socioeconomic characteristics of the target population (who); (ii) food environments (where); (iii) eating occasions (when); (iv) consumed dishes (what); and (v) ingredient attributes and consumer attitudes towards food (why). The approach and analyses are elaborated in the article "Unraveling heterogeneity of consumers' food choice: Implications for nutrition interventions in eastern India". Data from the survey can be further used to design behavioral experiments and interactive food choice tablet applications to elicit behavioral intentions in food choice.

| S-EPMC8166770 | biostudies-literature

First Observation of Compound Heterozygosity for Hb S/Hb Lepore-Hollandia in India.

Project description: Not available

| S-EPMC8315253 | biostudies-literature

Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia.

Project description:Background and purposeThalassemia is a genetic disorder with a fairly high prevalence worldwide. Three to 10% of Indonesian people are estimated to be carriers for thalassemia. This study was intended to figure out the spectrum of genetic mutations of patients with thalassemia in Samarinda City, East Kalimantan.MethodsThe research subjects consisted of 31 β-thalassemia patients registered with the Association of Thalassemia Patients' Parents (POPTI) of Samarinda. DNAs were extracted from the patients' blood samples then amplified by the direct sequencing technique with polymerase chain reaction to analyze β-globin gene mutations.ResultThe study results show that the male/female ratio was 51.6%:48.4%, the patients' ages ranged from 4 years to 56 years with an average age of 14 years, and the dominant ethnic group was Javanese (64.5%). The DNA analysis yielded 7 types of mutant alleles, namely Cd26/HbE (GAG>AAG) at 48.4%, IVS-1-5 (G > C) at 14.5%, IVS-1-2 (T > C) at 12.9%, Cd35 (-C) at 8.1%, IVS-1-1 (G > T) at 6.5%, and, the least frequently encountered mutant alleles, Cd30 (AGG > ACG) and Cd60 (GTG > GAG) each at 3.2%.ConclusionThis study discovered unreported mutant in Indonesia, namely Cd60 (GTG > GAG).

| S-EPMC6933185 | biostudies-literature

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