Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.

Hereditary Elliptocytosis (HE) and Hereditary Pyropoikilocytosis (HPP) are clinically and genetically heterogeneous red cell membranopathies that result from the defects in the horizontal linkage between RBC (red blood cell) membrane and cytoskeletal proteins affecting its mechanical stability and deformability thereby reducing its lifespan. The principal defect in HE and HPP is due to dysfunction or deficiency of RBC cytoskeletal proteins namely, α-spectrin (SPTA1), β-spectrin (SPTB) and protein 4.1R (EPB41R).

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Myelodysplastic syndromes (MDS) are a group of clonal hematological disease with high risk of progression to AML. Accurate risk stratification is of importance for the proper management of MDS. Genetic lesions (Cytogenetic and Molecular mutations) are known to help in prognosticating the MDS patients.

Significance of borderline HbA levels in β thalassemia carrier screening.

Increased HbA levels are the characteristic feature of β-thalassemia carriers. A subset of carriers however do not show HbA levels in the typical carrier range (≥ 4.0%) but show borderline HbA levels.

Borderline HbA levels: Dilemma in diagnosis of beta-thalassemia carriers.

There is inconsistency in the exact definition of diagnostic levels of HbA for β thalassemia trait. While many laboratories consider HbA ≥4.0 % diagnostic, still others consider HbA ≥3.

Molecular genotyping of Indian blood group antigens amongst regular voluntary blood donors of Surat city, Gujarat, India.

Background: There is paucity of data related to the prevalence of the rare blood group antigens amongst South Gujarat blood donor population due to unavailability and high cost of antisera. Therefore it is difficult to screen donors for such rare antigens by gold standard haemagglutination assay. The single nucleotide polymorphism (SNPs) of In and In antigens is the base of the PCR based detection methods that help to detect these alleles in regular voluntary blood donors.

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.

Objectives: To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India.

Methods: A retrospective analysis of all patients with a clinical suspicion of PID/IEI seen at a tertiary care hospital was performed. All patients had at least one or more warning signs of PID.

Evaluation and comparison of cytotoxicity and bioactivity of chemomechanical caries removal agents on stem cells from human exfoliated deciduous teeth.

Aim: To investigate and compare the cytotoxicity and bioactivity of CMCR agents on stem cells derived from exfoliated deciduous teeth.

Methodology: MTT assay, flow cytometry, Alizarin Red staining and scratch assay were used to assess the cellular viability, apoptosis, calcium matrix deposits and cell migration, respectively. The gene expression of ALP and BMP-2 was measured with RT-PCR.

Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.

Glucose phosphate isomerase (GPI) deficiency is an autosomal recessive condition with mutations in the GPI gene on chromosome 19q13.1. Patients present with congenital non-spherocytic hemolytic anemia, and occasionally intellectual disability.

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

Fanconi anemia (FA) is a rare autosomal or X-linked genetic disorder characterized by chromosomal breakages, congenital abnormalities, bone marrow failure (BMF), and cancer. There has been a discovery of 22 FANC genes known to be involved in the FA pathway. This wide number of pathway components makes molecular diagnosis challenging for FA.

Serosurvey for Health-Care Workers Provides Supportive Evidence for the Effectiveness of Hydroxychloroquine Prophylaxis against SARS-CoV-2 Infection.

Background: The Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic has resulted in occupational exposure among Healthcare Workers (HCWs) and a high risk of nosocomial transmission. Asymptomatic infection and transmission of infection before the development of symptoms are well-recognized factors contributing to the spread of infection. We conducted a cross-sectional observational study to understand the seroprevalence of SARS-CoV-2 infection among HCWs and to verify the appropriateness of infection control measures, particularly Hydroxychloroquine (HCQ) prophylaxis.

D--phenotype due to RHD-RHCE hybrid transcript in a case of severe haemolytic disease of newborn with anti-Rh 17(Hrₒ) antibodies.

Background: D antigen is one among the most immunogenic antigens and is the most common cause of Haemolytic Disease of Fetus and Newborn (HDFN). The D-phenotype is a rare Rh variant in which none of the RhCE antigens are expressed on the red cell surface. Individuals having D-phenotype are capable of producing a rare alloantibody named as anti-Rh17(Hr ) in response to pregnancy or transfusion and has the potential to react with C/c and E/e antigens causing severe haemolytic transfusion reaction (HTR) and haemolytic disease of fetus and newborn (HDFN).

Reference Ranges of Different Lymphocyte Subsets in Indian Children: A Multi-Centric Study.

Objective: To determine the reference ranges of various lymphocyte subsets in healthy Indian children.

Design: Descriptive cross-sectional study.

Setting: Four centers in India representing four geographical regions.

Nitric oxide synthase-2 (NOS2) gene polymorphism c.1832C>T (Ser608Leu) associated with nitrosative stress in Fanconi anaemia.

Fanconi anemia (FA) occurs due to genomic instability with predisposition to bone marrow failure, phenotypic abnormalities and cancers. Though mutations in 22 genes leading to DNA repair defect have been identified, the cellular factor such as oxidative stress has also shown to be associated with FA. Nitrosative Stress (NS) is biochemically correlated to many oxidative stress related disorders and the NS as a pathological hallmark in FA has been so far overlooked.

Molecular characterization of a rare Rh phenotype Dc-from the Indian subcontinent.

Unusual Rh phenotypes such as Rh, D-- and Dc- etc. are rarely encountered in routine blood bank testing. The Rh phenotype is characterized by the absence of all Rh antigens, D-- phenotype does not express any RhCcEe antigens whereas Dc- phenotype individual lacks expression of antithetical E /e antigens.

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.

Mendelian Susceptibility to Mycobacterial diseases (MSMD) are a group of innate immune defects with more than 17 genes and 32 clinical phenotypes identified. Defects in the IFN-γ mediated immunity lead to an increased susceptibility to intracellular pathogens like mycobacteria including attenuated -Bacillus Calmette-Guérin (BCG) vaccine strains and non-tuberculous environmental mycobacteria (NTM), , fungi, parasites like and some viruses, in otherwise healthy individuals. Mutations in the gene are the commonest genetic defects identified.

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

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 modulator is the type of β-globin mutation which affects the degree of β-globin chain synthesis, the co-inheritance of α-thalassemia and the fetal hemoglobin (HbF) levels also act as potent secondary genetic modifiers. As elevated HbF levels ameliorate the severity of hemoglobinopathies, in this review, the genetic modulators lying within and outside the β-globin gene cluster with their plausible role in governing the HbF levels have been summarised, which in future may act as potential therapeutic targets.

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Background: Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce.

Objective: To describe clinical and laboratory features of SCID diagnosed at immunology centers across India.