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Experience of Antenatal Thalassemia Screening and Prenatal Diagnosis from a Tertiary Care Teaching Hospital in Punjab
Prevention of birth of thalassemia major children by identification of risk couples and prenatal diagnosis has been recommended as a realistic and...
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Comparison of Two High-Pressure Liquid Chromatography Instruments Bio-Rad Variant-II and Tosoh HLC-723G11 in the Evaluation of Hemoglobinopathies
Hemoglobin High-performance liquid chromatography (Hb HPLC) is a standard first-line technique for diagnosis of thalassemia and hemoglobinopathies....
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Comparison of HbA2 Using High Performance Liquid Chromatography Versus Haemoglobin Capillary Zone Electrophoresis
Thalassemia is among the most common hereditary disorders in the world. Approximately 5% of the world’s population are carriers of...
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Impact of haemoglobin variants on the use of haemoglobin A1c for the diagnosis and monitoring of diabetes: a contextualised review
HbA1c is the established test for monitoring glycaemic control in diabetes, and intervention trials studying the impact of treatment on glycaemic...
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A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)
Genetic work-up of unexplained erythrocytosis that is suspected to be inherited in nature currently requires either laborious exon-by-exon gene panel...
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Exploring the Potential of Essential Oil from Plectranthus amboinicus Leaves against Breast Cancer: In vitro and In silico Analysis
Plectranthus amboinicus leaves were subjected to hydrodistillation to obtain essential oil (EO). Phytochemical analysis using gas chromatography-mass...
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Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension
Combined methylmalonic aciduria and homocystinuria, cblC type, (MAHCC) is a rare autosomal recessive metabolic disorder of remethylation caused due...
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Multi-criteria decision making to validate performance of RBC-based formulae to screen \(\beta\)-thalassemia trait in heterogeneous haemoglobinopathies
BackgroundIndia has the most significant number of children with thalassemia major worldwide, and about 10,000-15,000 children with the disease are...
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Screening of Dry Blood Spots from Newborns by Two High Performance Liquid Chromatography (HPLC) Systems: A Comparison of Their Ability to Diagnose Both Sickle and Non-sickle Hemoglobinopathies
Screening of newborns for the presence of sickle hemoglobin (HbS) is aimed at reducing the morbidity and mortality associated with sickle cell...
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Prenatal Screening and Diagnosis of ß-Thalassemia in India: Is ARMS-PCR Enough?
Accurate and timely prenatal diagnosis of thalassemia is cornerstone to the success of thalassemia control; currently parents are screened for...
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Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis
A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling...
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Clinical Course of Patients With Sickle Cell Anemia and Co-inherited Hematological Disorders: Experience at a Tertiary Hematological Centre
To study the clinical course of patients with sickle cell anemia and coinherited hematological disorders. Retrospective analysis of clinical data of...
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Role of Red Cell Indices in Screening for Beta Thalassemia Trait: an Assessment of the Individual Indices and Application of Machine Learning Algorithm
Antenatal screening for beta thalassemia trait (BTT) followed by counseling of couples is an efficient way of thalassemia control. Since high...
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HBB gene mutation spectrum in an Indian cohort of 1530 cases using an in-house targeted next-generation sequencing assay
Beta thalassemia major is a common genetic disorder characterized by the reduced production or absence of beta globin, a product of the haemoglobin...
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Spectrum of Hemoglobinopathies: A New Revelation in a Tertiary Care Hospital of Odisha
The prevalence of different types of hemoglobinopathies and its spectrum in Odisha state is believed to be high, but its exact prevalence is not...
