Krüppel-like factor 1 (KLF1) gene single nucleotide polymorphisms in sickle cell disease and its association with disease-related morbidities.

Sickle cell disease has varied clinical symptoms, and patients having high fetal hemoglobin (HbF) have milder symptoms. Various genetic factors are known to modulate the HbF levels. Krüppel-like factor 1 (KLF1) is a transcription factor that regulates the beta-like globin gene expression.

High Prevalence of Anemia and Inherited Hemoglobin Disorders in Tribal Populations of Madhya Pradesh State, India.

Despite estimated high prevalence of inherited hemoglobin (Hb) disorders among tribal populations in Madhya Pradesh State, India, the burden of disease is unknown, leading to high morbidity and associated mortality. Our aim was to screen tribal populations in designated tribal districts of Madhya Pradesh State for various hemoglobinopathies and to estimate the prevalence and plausible cause of anemia. The present study screened a total of 3992 tribal individuals comprised of students of Tribal schools, ashrams of Dindori, Mandla, and Chhindwara districts of Madhya Pradesh State.

Prevalence and spectrum of mutations causing G6PD deficiency in Indian populations.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human erythroenzymopathy affecting around 10% of the world population. India is endemic for malaria and antimalarial drugs are known to induce haemolysis in G6PD deficient individuals. Here we report the prevalence as well as the molecular diversity of G6PD deficiency in geographical regions of India.

Fine Mapping of Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency in a Rural Malaria Area of South West Odisha Using the Clinical, Hematological and Molecular Approach.

Introduction: The aim of the study was to enumerate the clinical, hematological, and molecular spectrum of G6PD deficiency in malaria endemic regions of south west Odisha.

Methods: Diagnosis of G6PD deficiency was made by using the Di-chloroindophenol Dye test in two south west districts (Kalahandi and Rayagada) of Odisha State. Demographic and clinical history was taken from each individual using a pre-structured questionnaire.

Prevalence of α(+)-Thalassemia in the Scheduled Tribe and Scheduled Caste Populations of Damoh District in Madhya Pradesh, Central India.

This study was carried out to ascertain the allelic frequency of α(+)-thalassemia (α(+)-thal) in Scheduled caste and scheduled tribe populations of the Damoh district of Madhya Pradesh, India. Random blood samples of Scheduled tribe (267) and Scheduled caste (168), considering the family as a sampling unit, were analyzed for the presence of the -α(3.7) (rightward) (NG_000006.

Sickle cell disease in Madhya Pradesh, Central India: A comparison of clinical profile of sickle cell homozygote vs. sickle-beta thalassaemia individuals.

Background And Objectives: The clinical manifestation in sickle cell disease (SCD) patients varies from one individual to another due to factors like the presence of alpha-thalassaemia mutation, foetal haemoglobin, and β-globin gene haplotype. The present study enumerates the clinical profile of sickle cell anaemia patients from Central India.

Methods: Seven hundred seventy-six SCD patients from Jabalpur and surrounding districts (Madhya Pradesh) in central India were registered with the sickle cell clinic of NIRTH, Jabalpur.

Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India.

Patients with sickle cell disease (SCD) produce significantly low levels of plasma nitric oxide (NO) during acute vaso-occlusive crisis. In transgenic sickle cell mice, NO synthesized by endothelial nitric oxide synthase (eNOS) enzyme of vascular endothelial cells has been found to protect the mice from vaso-occlusive events. Therefore, the present study aims to explore possible association of eNOS gene polymorphism as a potential genetic modifier in SCD patients.

Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India.

Background: It is known that patients with sickle cell disease (SCD) present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises and also during the steady state of the disease. We determined whether the presence of the factor prothrombin gene G20210A variant, factor V gene G1691A mutation (factor V Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms may be risk factors for vascular complications in individuals with SCD.

Methods: The study involved 150 patients with sickle cell anemia and 150 healthy controls of Central India.