Homozygous sickle cell disease in Central India & Jamaica: A comparison of newborn cohorts.

Background & Objectives: Homozygous sickle cell (SS) disease in Central India runs a more severe clinical course than reports from other areas of India. The current study was undertaken to compare the disease in Central India (Nagpur) with that in Jamaica, both populations defined by newborn screening.

Methods: The Nagpur cohort included infants born to sickling-positive mothers from May 2008 to 2012, examined by high-pressure liquid chromatography and DNA analysis.

Red Cell Indices and Hemoglobin Profile of Newborn Babies with Both the Sickle Gene and Alpha Thalassaemia in Central India.

This study evaluated the effect of alpha thalassemia on the red cell indices and hemoglobin profiles of normal, sickle heterozygous and sickle homozygous newborn babies in central India where the sickle gene is linked to the Arab-Indian haplotype. 265 newborn babies were analysed with complete blood count and hemoglobin analysis on high performance liquid chromatography (Variant Hb Testing System, BioRad Laboratories, Hercules, CA, USA) using the β-thal short program. The sickle genotypes was confirmed by DNA analysis.

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Introduction: The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years.

Prenatal Diagnosis of HbE-β-Thalassemia: Experience of a Center in Western India.

The clinical presentation of HbE-β-thalassemia is extremely variable, however, many cases are severe and transfusion dependent. We offered prenatal diagnosis to 108 couples, 20 of whom came prospectively. CVS was done in 93 cases (9.

Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India.

Hemoglobinopathies are a group of inherited single gene disorders. There are reports on hemoglobin (Hb) variants identified in the tribal and non-tribal populations of Tripura State in northeastern India. This study aimed to determine the spectrum of hemoglobinopathies and enzymopathies by newborn screening in Tripura State and assess the extent of neonatal jaundice.

Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.

Background: Sickle cell disease (SCD) is a major health burden in India. The objective of the study was to establish a neonatal screening program and to understand the clinical course of children with SCD in central India.

Methods And Findings: Pregnant mothers were screened for sickle hemoglobin using the solubility test.

Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes.

Co-inheritance of triplicated α-genes can alter the clinical and hematological phenotypes of β-thalassemias. We evaluated the phenotypic diversity and transfusion requirements in β-thalassemia heterozygotes, homozygotes, and normal individuals with associated α-gene triplication. Clinical and hematological evaluation was done and the β-thalassemia mutations characterized by a covalent reverse dot blot hybridization/amplification refractory mutation system.

Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings.

Background: Sickle cell disease is a major health burden in India. The aim of the study was to compare the diagnostic utility of two different approaches on automated high performance liquid chromatography (HPLC) for newborn screening for sickle cell disorders and other haemoglobinopathies in India.

Methods: Newborn babies of sickle heterozygous mothers were tested by HPLC using two different kits, the β-thal short kit, which is routinely used for screening for haemoglobinopathies in most laboratories, and the sickle cell short kit which is specific only for neonatal samples.

Clinical and hematological presentation among Indian patients with common hemoglobin variants.

Background: Co-inheritance of structural hemoglobin variants like HbS, HbD(Punjab) and HbE can lead to a variable clinical presentation and only few cases have been described so far in the Indian population.

Methods: We present the varied clinical and hematological presentation of 22 cases (HbSD(Punjab) disease-15, HbSE disease-4, HbD(Punjab)E disease-3) referred to us for diagnosis.

Results: Two of the 15 HbSD(Punjab) disease patients had moderate crisis, one presented with mild hemolytic anemia; however, the other 12 patients had a severe clinical presentation with frequent blood transfusion requirements, vaso occlusive crisis, avascular necrosis of the femur and febrile illness.

First case of Hb Fontainebleau with sickle haemoglobin and other non-deletional α gene variants identified in neonates during newborn screening for sickle cell disorders.

Objective: To evaluate the significance of non-deletional α gene variants identified in neonates during newborn screening for sickle cell disorders.

Methods: 1534 newborn babies were screened in the last 2 years for sickle cell disease using a targeted screening approach. Investigations included a complete blood count, high performance liquid chromatography analysis, cellulose acetate electrophoresis (pH 8.