Borderline HbA2 levels: dilemma in diagnosis of beta-thalassemia carriers

S Colaco, A Nadkarni - Mutation Research/Reviews in Mutation Research, 2021 - Elsevier
There is inconsistency in the exact definition of diagnostic levels of HbA 2 for β thalassemia
trait. While many laboratories consider HbA 2≥ 4.0% diagnostic, still others consider HbA …

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

J He, W Song, J Yang, S Lu, Y Yuan, J Guo… - Genetics in …, 2017 - nature.com
Purpose: Thalassemia is one of the most common monogenic diseases in southwestern
China, especially among the Dai ethnic group. Here, we explore the feasibility of a next …

Clinical applications and implications of common and founder mutations in Indian subpopulations

A Ankala, PM Tamhankar, CA Valencia… - Human …, 2015 - Wiley Online Library
ABSTRACT S outh A sian I ndians represent a sixth of the world's population and are a
racially, geographically, and genetically diverse people. Their unique anthropological …

Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine

P Hariharan, M Gorivale, P Sawant, P Mehta… - Scientific reports, 2021 - nature.com
Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence,
understanding the genetics underlying the heritable sub-phenotypes of …

Response to hydroxyurea in β thalassemia major and intermedia: experience in western India

KY Italia, FJ Ji**a, R Merchant, S Panjwani… - Clinica Chimica …, 2009 - Elsevier
BACKGROUND: The clinical and hematological response to hydroxyurea was evaluated in
β thalassemia patients in western India with variable clinical severity and correlated with …

Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-β-thalassemia in Northeast Thailand

L Nuntakarn, S Fucharoen, G Fucharoen… - Blood Cells, Molecules …, 2009 - Elsevier
Hb E-β-thalassemia is the most common form of β-thalassemia found in Thailand. The
disease exhibits a varied clinical expression ranging from severe transfusion dependence to …

Regional heterogeneity of β-thalassemia mutations in the multi ethnic Indian population

R Colah, A Gorakshakar, A Nadkarni… - Blood Cells, Molecules …, 2009 - Elsevier
To determine the frequencies of β-thalassemia mutations in different states of India and to
compare this with the available data in Asian Indians for a comprehensive catalogue of …

Oxidative status and plasma lipid profile in β-thalassemia patients

N Boudrahem-Addour, M Izem-Meziane… - …, 2015 - Taylor & Francis
Abstract β-Thalassemia (β-thal) is a genetic disorder, representing a major health problem in
Algeria. It is associated with altered lipid levels and a state of oxidative stress that can lead …

'Rakter dosh'—corrupting blood: The challenges of preventing thalassemia in Bengal, India

S Chattopadhyay - Social science & medicine, 2006 - Elsevier
Thalassemia is an inherited blood disorder that has been receiving increasing attention in
India. However, prevention of thalassemia in India continues to be difficult despite efforts of …

Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations

IC Verma, M Kleanthous, R Saxena, S Fucharoen… - …, 2007 - Taylor & Francis
We studied 325 thalassemia intermedia patients from Iran, India, Pakistan, Thailand,
Mauritius and Cyprus to examine factors which influence the phenotype. The β-thalassemia …