Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia.

The phenotype of β-thalassemia varies widely. The primary determinant is the type of beta-globin gene mutation; however, there are secondary and tertiary modifiers also as associated alpha mutations, polymorphisms, as well as coinheritance of mutations affecting other related systems. Co-inheritance of alpha thalassemia mutations is known to ameliorate the severity of HbE-β thalassemia.

Pattern of hemoglobinopathy among the young tribes of West Bengal: A completely different scenario from Rest of India.

Hemoglobinopathy is a major concern among the tribal population which constitutes 8.6% of the total population, and West Bengal (WB) is the home to 5.3 million tribes.

Study of Association of Global Deoxyribonucleic Acid Methylation in Women with Polycystic Ovary Syndrome.

Background: Polycystic ovary syndrome (PCOS), a common endocrine disorder affecting 5%-10% of reproductive age women worldwide, associated with various metabolic morbidities. One potential molecular mechanism could be epigenetic modifications, such as deoxyribonucleic acid (DNA) methylation.

Aims: The aim is to determine the association of global DNA methylation in peripheral blood leucocyte (PBL) cells and PCOS women.

Interfacial energy driven distinctive pattern formation during the drying of blood droplets.

Hypothesis: Dried blood droplet morphology may potentially serve as an alternative biomarker for several patho-physiological conditions. The deviant properties of the red blood cells and the abnormal composition of diseased samples are hypothesized to manifest through unique cell-cell and cell-substrate interactions leading to different morphological patterns. Identifying distinctive morphological trait from a large sample size and proposing confirmatory explanations are necessary to establish the signatory pattern as a potential biomarker to differentiate healthy and diseased samples.

Key Determinants of Phenotypic Heterogeneity of Hb E/β Thalassemia: A Comparative Study from Eastern India.

HbE Beta thalassemia is phenotypically very diverse disease. We aim to study role of various genetic factors in determining severity of this disease. 243 diagnosed cases of HbE Beta thalassemia were included in this study.

Alpha Globin Gene Mutation: A Major Determinant of Hydroxyurea Response in Transfusion-Dependent HbE-β-Thalassaemia.

Thalassaemias are the most common inherited autosomal recessive single gene disorders characterised by chronic hereditary haemolytic anaemia due to absence or reduced synthesis of one or more of the globin chains. Haemoglobin E (HbE)-β-thalassaemia is the genotype responsible for approximately one-half of all cases of severe β-thalassaemia worldwide. This study proposes to evaluate response of hydroxyurea in reducing transfusion requirements of severe HbE-β-thalassaemia patients, and its correlation with foetal haemoglobin (HbF) level and α-mutation.

Association of alpha hemoglobin-stabilizing protein (AHSP) gene mutation and disease severity among HbE-beta thalassemia patients.

In this study, we aimed to investigate the pattern and association of genetic mutations occurring within the alpha hemoglobin-stabilizing protein (AHSP) gene among HbE beta thalassemia patients with varying phenotypic expressions. Fifty-four diagnosed cases of HbE beta thalassemia (transfusion dependent and independent) were included in the study. Among them, 38 patients with similar genotypes (IVS 1-5, alpha gene deletion and triplication, Xmn polymorphism) were selected for further analysis.

Genetic determinants related to pharmacological induction of foetal haemoglobin in transfusion-dependent HbE-β thalassaemia.

Thalassaemia are the most common inherited autosomal recessive single gene disorders characterized by chronic hereditary haemolytic anaemia due to the absence or reduced synthesis of one or more of the globin chains. Haemoglobin E-β thalassaemia is the genotype responsible for approximately one half of all severe beta-thalassaemia worldwide. This study proposes to evaluate the effect of various molecular parameters on the response of hydroxyurea.

Efficacy of decitabine as hemoglobin F inducer in HbE/β-thalassemia.

To study safety, efficacy (hemoglobin and hemoglobin F percentage increment in non-transfusion-dependent patients and decrease in transfusion frequency in transfusion-dependent patients), and determinants of response of decitabine in patients with HbE/β-thalassemia. Thirty patients of HbE/β-thalassemia (age > 18 years) were enrolled. Both transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) patients were included after obtaining informed consent.

Histopathological study with immunohistochemical expression of vascular endothelial growth factor in placentas of hyperglycemic and diabetic women.

Aims And Objectives: Spectrum of hyperglycemia in pregnancy includes gestational diabetes mellitus (GDM), mild hyperglycemia, and overt diabetes. Many authors have worked on morphological changes of the placenta in diabetes, but few studies have correlated histopathological changes with vascular endothelial growth factor (VEGF) immunoexpression. The aim of this study was to detect different histopathological changes in various groups of diabetic placentas and to correlate with VEGF immunoexpression.