Dynamic interplay of microRNA in diseases and therapeutic

N Kargutkar, P Hariharan, A Nadkarni - Clinical Genetics, 2023 - Wiley Online Library
MicroRNAs are the major class of small non‐coding RNAs, evolutionary conserved post‐
transcriptional regulators of gene expression. Since their discovery in 1993, they have been …

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 …

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 …

Longitudinal study on thyroid function in patients with thalassemia major: High incidence of central hypothyroidism by 18 years

AT Soliman, F Al Yafei, L Al-Naimi… - Indian journal of …, 2013 - journals.lww.com
Results: A total of 48 patients (22 males and 26 females) completed a 12 year-period of
follow-up. During this period, hypothyroidism was diagnosed in 17/48 (35%) of patients …

Insight of fetal to adult hemoglobin switch: genetic modulators and therapeutic targets

P Hariharan, A Nadkarni - Blood Reviews, 2021 - Elsevier
The clinical heterogeneity of β-hemoglobinopathies is so variable that it prompted the
researchers to identify the genetic modulators of these diseases. Though the primary …

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 …

[HTML][HTML] Clinical, hematologic and molecular variability of sickle cell-β thalassemia in western India

MB Mukherjee, AH Nadkarni… - Indian journal of …, 2010 - ncbi.nlm.nih.gov
BACKGROUND: Sickle cell-β thalassemia (HbS-β thalassemia) is a sickling disorder of
varying severity, which results from compound heterozygosity for sickle cell trait and β …

Prevalence and molecular characterization of α-thalassemia syndromes among Indians

A Nadkarni, S Phanasgaonkar, R Colah, D Mohanty… - Genetic …, 2008 - liebertpub.com
Objective: This study was undertaken to determine the prevalence and molecular basis of α-
thalassemia in the Indian population and its implications in genetic counseling and prenatal …

[HTML][HTML] Mutational spectrum of thalassemias in India

I Panigrahi, RK Marwaha - Indian journal of human genetics, 2007 - ncbi.nlm.nih.gov
Beta-thalassemia is clinically more significant in India, with higher incidence in certain
communities. Few common mutations account for> 95% of severe beta-thalassemia cases …

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population

H Yasmeen, S Toma, N Killeen, S Hasnain… - European journal of …, 2016 - Elsevier
Introduction A multicentre study (including four cities in Pakistan) aimed to investigate the
frequency and spectrum of alpha and beta thalassemia genetic mutations and XmnI …