Compound Heterozygosity of β-Thalassemia and the Sickle Cell Hemoglobin in Various Populations of Chhattisgarh State, India

Jha, Aditya Nath; Mishra, Harshit; Verma, Henu Kumar; Pandey, I. C.; Lakkakula, Bhaskar Vks

doi:10.1080/03630269.2018.1483946

Cited by 7 publications

(3 citation statements)

References 38 publications

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“…Furthermore, the adaptive immune system in SCD is compromised, characterized by a reduced production of memory B cells and crucial IgM components, essential for the humoral immune system. This weakened immunity hinders the ability to combat viral infections, thereby worsening the condition in SCD patients, and the impact of infections contributes to multi-organ dysfunction [8].…”

Section: Immune Dysfunction and Susceptibility To Infectionmentioning

confidence: 99%

Infection and Potential Challenge of Childhood Mortality in Sickle Cell Disease: A Comprehensive Review of the Literature from a Global Perspective

Sahu,

Pande,

Verma

et al. 2023

Thalassemia Reports

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Sickle cell disease (SCD) is a complex genetic disorder associated with multiple clinical manifestations, including increased susceptibility to bacterial and viral infections. This review article presents a comprehensive analysis of the current literature obtained from various online databases focusing on the relationship between SCD and infections caused by specific pathogens, such as pneumonia- and influenza-causing pathogens, Escherichia coli, Staphylococcus aureus, parvovirus, and hepatitis viruses. We discuss the underlying mechanisms that contribute to the increased susceptibility of individuals with SCD to these infections, primarily related to the pathophysiology of variant hemoglobin (HbSS) and its impact on vascular occlusion, hemolysis, functional asplenia, and immune deficiency. Moreover, we highlight the significant burden of infections on SCD patients, particularly children under five years of age, where they are the leading cause of morbidity and mortality. Additionally, we address the challenges faced in attempts for reducing the global mortality rate associated with SCD, particularly in low-income countries, where factors such as increased pathogen exposure, co-morbidities like malnutrition, lower vaccination rates, and limited healthcare facilities contribute to the high disease burden. This review emphasizes the need for targeted interventions, improved healthcare access, vaccination programs, and infection prevention strategies to alleviate the impact of infections on individuals with SCD and reduce the global mortality rates associated with the disease.

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Section: Immune Dysfunction and Susceptibility To Infectionmentioning

confidence: 99%

Infection and Potential Challenge of Childhood Mortality in Sickle Cell Disease: A Comprehensive Review of the Literature from a Global Perspective

Sahu,

Pande,

Verma

et al. 2023

Thalassemia Reports

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“…This possibility is easier to argue for variants such as those in PANK3 or RHD that have more than 1000 heterozygous despite zero homozygous counts. Another possibility is that some of these variants might be beneficial when heterozygous despite being detrimental when homozygous (as with the sickle cell homozygous β-globin variant p.Glu7Val that provides malaria resistance when heterozygous 45,46 ).…”

Section: Introductionmentioning

confidence: 99%

Never-homozygous genetic variants in healthy populations are potential recessive disease candidates

et al. 2022

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The rapid pace with which genetic variants are now being determined means there is a pressing need to understand how they affect biological systems. Variants from healthy individuals have previously been used to study blood groups or HLA diversity and to identify genes that can apparently be nonfunctional in healthy people. These studies and others have observed a lower than expected frequency of homozygous individuals for potentially deleterious alleles, which would suggest that several of these alleles can lead to recessive disorders. Here we exploited this principle to hunt for potential disease variants in genomes from healthy people. We identified at least 108 exclusively heterozygous variants with evidence for an impact on biological function. We discuss several examples of candidate variants/genes including CCDC8, PANK3, RHD and NLRP12. Overall, the results suggest there are many, comparatively frequent, potentially lethal or disease-causing variants lurking in healthy human populations.

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“…3,4 Genetic factors, such as mutations in the αor β-globin gene, can modulate the clinical expression of SCD. 5,6 Pathogenesis of SCD varies by age group and also depends on haplotypes, although the Indo-Arab haplotype experiences milder disease because of higher fetal hemoglobin levels. 7 Leg ulcers are a recurrent and debilitating consequence of SCD, especially in those with the homozygous genotype.…”

Section: Introductionmentioning

confidence: 99%

Common, But Neglected: A Comprehensive Review of Leg Ulcers in Sickle Cell Disease

Sahu

Verma

Ganguly

et al. 2021

Adv Skin Wound Care

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OBJECTIVE To compile available evidence to better understand the management of leg ulcers in sickle cell disease (SCD), as well as describe potential therapeutic steps that may be required to improve the quality of life of patients with SCD leg ulcers. DATA SOURCES MEDLINE, PubMed, EMBASE, and Web of Science databases STUDY SELECTION A comprehensive search was conducted to retrieve relevant studies using the keywords “sickle cell disease and leg ulcer,” “ulcer treatments, diagnosis and sickle cell,” and “wound sickle cell.” Studies published through July 2020 were included. DATA EXTRACTION Two independent authors selected all studies that assessed the relationship between leg ulcer and SCD identified from online databases. DATA SYNTHESIS The authors have summarized updated information on pathophysiology (vasculopathy linked to chronic hemolysis and endothelial dysfunction), diagnosis, and available treatment options to unravel the dermohematologic connection between leg ulcers and SCD. CONCLUSIONS It is the authors’ hope that this detailed discussion of the information available on leg ulcers and SCD will lead to a better appreciation of this clinical problem by the clinicians and researchers and in turn have a long-term positive effect on the quality of life of patients with SCD. Researchers should design new trials considering these insights and potential therapeutic approaches based on current knowledge.

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Compound Heterozygosity of β-Thalassemia and the Sickle Cell Hemoglobin in Various Populations of Chhattisgarh State, India

Cited by 7 publications

References 38 publications

Infection and Potential Challenge of Childhood Mortality in Sickle Cell Disease: A Comprehensive Review of the Literature from a Global Perspective

Infection and Potential Challenge of Childhood Mortality in Sickle Cell Disease: A Comprehensive Review of the Literature from a Global Perspective

Never-homozygous genetic variants in healthy populations are potential recessive disease candidates

Common, But Neglected: A Comprehensive Review of Leg Ulcers in Sickle Cell Disease

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