Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years DOI Creative Commons

Pallavi Thaker,

Roshan Colah,

Jignisha Patel

et al.

Frontiers in Medicine, Journal Year: 2022, Volume and Issue: 8

Published: Feb. 15, 2022

Sickle cell disease (SCD) poses considerable public health problems in India. This study was undertaken to understand the clinical course of SCD among children identified during newborn screening programmes Gujarat and Madhya Pradesh where frequency HbS gene is high. A total 8,916 babies 8,411 from 505 were screened over 6 years (2010-2016) using HPLC diagnosis confirmed by molecular analysis a subset. 128 (122 Gujarat, Pradesh) with sickle disease, whom 87 (69 HbSS, 18 HbS-β thalassemia) followed for 0.5-6.6 years. Acute painful events, severe anemia fever infections major complications 23 required hospitalization. Severe moderate presentation found 13.8% whereas, 86.2% had milder presentation. Presence ameliorating factors (α-thalassemia Xmn 1 polymorphism) did not have discernible effect on severity. Parents educated counseled home care. Distribution mobile phones 44 families having beneficial as it allowed regular contact patients their families. Genetic counseling affected has increased awareness acceptance prenatal couples opted subsequent pregnancies. always mild tribal groups Therefore, facilities early prophylactic treatment tertiary care centers should be made available. The difficulties follow up remote rural areas also been highlighted.

Language: Английский

Confronting Racism in All Forms of Pain Research: Reframing Study Designs DOI Creative Commons
Janelle E. Letzen, Vani A. Mathur, Mary R. Janevic

et al.

Journal of Pain, Journal Year: 2022, Volume and Issue: 23(6), P. 893 - 912

Published: Feb. 26, 2022

Language: Английский

Citations

81
Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology Commission DOI
Frédéric B. Piel, David C. Rees, Michael R. DeBaun

et al.

The Lancet Haematology, Journal Year: 2023, Volume and Issue: 10(8), P. e633 - e686

Published: July 11, 2023

Language: Английский

Citations

71
Sickle Cell Disease, a Review DOI Creative Commons
Cameron K. Tebbi

Hemato, Journal Year: 2022, Volume and Issue: 3(2), P. 341 - 366

Published: May 30, 2022

Sickle cell disease and its variants constitute the most common inherited blood disorders affecting millions of individuals worldwide. Significant information regarding nature genetic mutations modifier genes that result in increased or decreased severity are available. In recent years, detailed data molecular genetics, pathophysiology, mechanisms for development symptoms side effects sickle have been published. The relationship physiological changes, cellular interactions, coexisting coagulation disorders, association with other a number intervening factors explored. New techniques pre-conception, prenatal, utero, neonatal screening Means prediction disease, clinical course disorder, prevention some major complications developed. psychosocial environmental Various therapeutic strategies including bone marrow stem transplantation currently employed treatment patients disease. Recent progress understanding pathways controlling mammalian erythropoiesis globin switching, as well advances genome engineering, particularly gene-editing techniques, opened venue genetic-based Currently, is often associated high rate mortality. new pharmacological agents, methods gene therapy, alterations modification modifiers encouraging.

Language: Английский

Citations

45
Ketorolac vs Morphine for Severe Vaso-Occlusive Crisis in Sickle Cell Disease: An Open-Label Randomized Controlled Trial (KISS Study) DOI
S. Reddy,

Sunil Jondhale,

Santosh Kumar Rathia

et al.

Indian Pediatrics, Journal Year: 2025, Volume and Issue: 62(1), P. 15 - 19

Published: Jan. 1, 2025

Language: Английский

Citations

1
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians DOI Open Access

Neethukrishna Kausthubham,

Anju Shukla, Neerja Gupta

et al.

Human Mutation, Journal Year: 2021, Volume and Issue: 42(4)

Published: Jan. 27, 2021

Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family members can provide reliable source of common variants population. Exome sequencing (ES) from families Mendelian was aggregated five centers India. The dataset refined by excluding related individuals removing disease-causing (refined cohort). efficiency these sets assessed new 50 exomes against gnomAD GenomeAsia. Our original cohort comprised 1455 1203 families. had 836 unrelated that retained 1,251,064 181,125 population-specific 489,618 variants. allele frequencies our helped to define 97,609 44,520 GenomeAsia as variant provided an additional 1.7% 0.1% prioritizing heterozygous homozygous respectively disorders. observed 19 genes/human knockouts. list carrier frequency 142 recessive This large useful resource exonic Indians. Despite limitations, datasets efficient tools prioritization resource-limited setting.

Language: Английский

Citations

42
Bayesian optimized multimodal deep hybrid learning approach for tomato leaf disease classification DOI Creative Commons

Bodruzzaman Khan,

Subhabrata Das,

Nafis Shahid Fahim

et al.

Scientific Reports, Journal Year: 2024, Volume and Issue: 14(1)

Published: Sept. 14, 2024

Language: Английский

Citations

7
Genomics of rare genetic diseases—experiences from India DOI Creative Commons

Sridhar Sivasubbu,

Vinod Scaria

Human Genomics, Journal Year: 2019, Volume and Issue: 13(1)

Published: Sept. 25, 2019

Abstract Home to a culturally heterogeneous population, India is also melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice consanguinity, not only makes Indian distinct from rest world but provides unique advantage and niche understand diseases. Centuries isolation have amplified founder effects, contributing high prevalence recessive alleles, which translates into diseases, rare diseases in India. Rare are becoming public health concern because large size close billion people would essentially translate huge disease burden for even rarest Genomics-based approaches been demonstrated accelerate diagnosis reduce socio-economic burden. Genomics Understanding Diseases: Alliance Network (GUaRDIAN) stands providing genomic solutions consortium aims establish collaborative framework care planning, implementation, delivery area It nation-wide research initiative catering across cohorts, over 240 clinician/scientist collaborators 70 major medical/research centers. Within GUaRDIAN framework, clinicians refer patients, generate whole genome or exome datasets followed computational analysis data identifying causal pathogenic variations. outcomes being translated as community services through suitable platform low-cost diagnostic assays In addition GUaRDIAN, several investigations diseased healthy undertaken country solve dilemma. summary, contribute significant can enable accelerated management We discuss how such provide cater

Language: Английский

Citations

53
Impacts of oxidative stress and anti-oxidants on the development, pathogenesis, and therapy of sickle cell disease: A comprehensive review DOI Open Access

E. Pavitra,

Rakesh Kumar Acharya, Vivek Kumar Gupta

et al.

Biomedicine & Pharmacotherapy, Journal Year: 2024, Volume and Issue: 176, P. 116849 - 116849

Published: June 1, 2024

Sickle cell disease (SCD) is the most severe monogenic hemoglobinopathy caused by a single genetic mutation that leads to repeated polymerization and depolymerization of hemoglobin resulting in intravascular hemolysis, adhesion, vascular occlusion, ischemia–reperfusion injury. Hemolysis causes oxidative damage indirectly generating reactive oxygen species through various pathophysiological mechanisms, which include autoxidation, endothelial nitric oxide synthase uncoupling, reduced bioavailability, elevated levels asymmetric dimethylarginine. Red blood cells have built-in anti-oxidant system includes enzymes like sodium dismutase, catalase, glutathione peroxidase, along with free radical scavenging molecules, such as vitamin C, E, glutathione, help them fight damage. However, these anti-oxidants may not be sufficient prevent effects stress SCD patients. Therefore, line recent FDA request focus placed on development innovative therapies for address root cause disease, there need target restore redox balance This review summarizes current state knowledge regarding role potential benefits therapies. It also discusses challenges limitations suggests future directions research development.

Language: Английский

Citations

5
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India DOI Creative Commons
Arshia Angural,

Akshi Spolia,

Ankit Mahajan

et al.

Frontiers in Genetics, Journal Year: 2020, Volume and Issue: 11

Published: April 30, 2020

Rare diseases are the clinical conditions affecting a few percentage of individuals in general population compared to other diseases. Limited information and lack reliable epidemiological data make their timely diagnosis therapeutic management difficult. Emerging Next-Generation DNA Sequencing technologies have enhanced our horizons on patho-physiological understanding many rare ushered us into an era diagnostic research related this ignored health challenge. Unfortunately, relevant is meager developing countries which estimate exact burden most India be considered as "Pandora's Box genetic disorders". Owing its huge heterogeneity high inbreeding or endogamy rates, literature indicates highly detrimental it enhances degree homozygosity recessive alleles population, higher expected. The low resource region Jammu Kashmir – India, inbred. Some groups variably practice consanguinity. In context with region's typical geographical topography, inbred structure unique but heterogeneous gene pool, known uncharacterized disorders suspected cases remain undiagnosed misdiagnosed due appropriate well resources region, causing patients face psycho-socio-economic crisis time suffer life-long ailment. review, major challenges associated highlighted account methods that can adopted for conducting fruitful molecular studies genetically vulnerable regions also provided, example like India.

Language: Английский

Citations

34
Prevalence of Sickle cell disease, Sickle cell Trait and HBS-beta-thalassemia in India: a systematic review and Meta-analysis DOI Creative Commons
Priyanka Rao, Elstin Anbu Raj, Senthil Natesan

et al.

Clinical Epidemiology and Global Health, Journal Year: 2024, Volume and Issue: 28, P. 101678 - 101678

Published: June 19, 2024

BackgroundSickle Cell Disease (SCD) is a common inherited disease in India. However, more aggregate data regarding the burden and distribution of SCD India required.MethodsA search was conducted five electronic databases between 2000-2023. The quality appraisal performed using JBI Critical Appraisal Tool for prevalence studies. review reported according to PRISMA guidelines.Results87 studies were included this systematic review. SCD, Sickle cell Trait (SCT), HBS beta thalassemia estimated be 1.17% (95% CI:0.79% - 1.75%), 5.9% CI:3.8% 8.88%) 0.37% CI:0.17% 0.83%) respectively. Madhya Pradesh, Chhattisgarh, Maharashtra have high SCT. higher among tribal communities India.ConclusionPrioritizing management through targeted screening at-risk couples newborns, pre-marital counseling raising awareness can assist reducing burden.

Language: Английский

Citations

4