Search Results - "Colah, R"
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1
A successful twin pregnancy in a patient with HbE-β-thalassemia in western India
Published in Journal of postgraduate medicine (01-07-2015)“…Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE)-β-thalassemia patients reach adulthood. Consequently,…”
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2
Delta globin gene variations leading to reduction in HbA2 levels
Published in International journal of laboratory hematology (01-12-2016)“…Summary Introduction Mutations in the δ‐globin gene are not pathogenically relevant, but co‐inheritance of δ‐globin variants along with β‐globin gene defects…”
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3
Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study
Published in Journal of community genetics (01-01-2013)“…The population of India is extremely diverse comprising of more than 3,000 ethnic groups who still follow endogamy. Haemoglobinopathies are the commonest…”
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Molecular understanding of Indian untransfused thalassemia intermedia
Published in International journal of laboratory hematology (01-12-2015)“…Summary Background The term thalassemia intermedia describe a form of thalassemia of intermediate severity, between the major transfusion‐dependent forms of…”
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5
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India
Published in Clinical genetics (01-01-2015)“…We report the clinical features and molecular characterization of 23 patients with cyanosis due to NADH‐cytochrome b5 reductase (NADH‐CYB5R) deficiency from…”
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6
Attenuation of oxidative hemolysis of human red blood cells by the natural phenolic compound, allylpyrocatechol
Published in Free radical research (01-09-2013)“…The protecting ability of the Piper betle leaves-derived phenol, allylpyrocatechol (APC) against AAPH-induced membrane damage of human red blood cells (RBCs)…”
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ICSH recommendations for assessing automated high-performance liquid chromatography and capillary electrophoresis equipment for the quantitation of HbA2
Published in International journal of laboratory hematology (01-10-2015)“…Summary Automated high performance liquid chromatography and Capillary electrophoresis are used to quantitate the proportion of Hemoglobin A2 (HbA2) in blood…”
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8
Delta globin gene variations leading to reduction in HbA 2 levels
Published in International journal of laboratory hematology (01-12-2016)“…Mutations in the δ-globin gene are not pathogenically relevant, but co-inheritance of δ-globin variants along with β-globin gene defects can mask the diagnosis…”
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9
A new simple approach for the determination of pyrimidine 5′-nucleotidase activity in human erythrocytes using an ELISA reader
Published in International journal of laboratory hematology (01-06-2012)“…Summary Introduction: Pyrimidine 5′ nucleotidase type I (P5′N‐1) deficiency is the most frequent abnormality of cell nucleotide metabolism causing hereditary…”
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10
Detection of fetal mutations causing hemoglobinopathies by non-invasive prenatal diagnosis from maternal plasma
Published in Journal of postgraduate medicine (01-01-2013)“…Background: Prenatal diagnosis of hemoglobinopathies enables couples at risk to have a healthy child. Currently used fetal sampling procedures are invasive…”
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11
Hb M Hyde Park and Hb M Boston in two Indian families - a rare cause of methaemoglobinemia
Published in International journal of laboratory hematology (01-04-2015)Get full text
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Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes
Published in The HUGO journal (01-12-2009)“…Thalassaemia and sickle cell disease have been recognized by the World Health Organization as important inherited disorders principally impacting on the…”
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13
Hemoglobin variants and high-performance liquid chromatography
Published in International journal of laboratory hematology (01-10-2013)Get full text
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14
Experience with eosin-5′-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders
Published in Clinical and laboratory haematology (01-12-2003)“…Summary The diagnosis of hereditary spherocytosis (HS) is based on red cell morphology and other conventional tests such as osmotic fragility, autohemolysis…”
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15
Five α globin chain variants identified during screening for haemoglobinopathies
Published in European journal of clinical investigation (01-03-2010)“…Eur J Clin Invest 2010; 40 (3): 226–232 Background This study was undertaken to analyse cases of microcytosis, and/or haemolytic anaemia where an unusual peak…”
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16
Hemoglobin Lepore Hollandia in India
Published in International journal of laboratory hematology (01-04-2012)“…Summary Introduction: Hb Lepore is a structurally abnormal hemoglobin in which the abnormal globin chain is a hybrid or fused δβ globin chain. In the…”
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17
HPLC studies in hemoglobinopathies
Published in Indian journal of pediatrics (01-07-2007)“…An accurate diagnosis of beta -thalassemia carriers, homozygous patients and identification of different structural hemoglobin variants is important for…”
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Clinical and molecular characterization of Hb Hofu in eastern India
Published in International journal of laboratory hematology (01-02-2014)“…Summary Introduction Hb Hofu (HBB:c. 380T>A) is a rare inherited hemoglobin abnormality with few case reports in the world literature. Methods Screening for…”
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Hemoglobin variants in Muslim community in South Gujarat, Western India
Published in International journal of laboratory hematology (01-02-2014)Get full text
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Evaluation of F cells in sickle cell disorders by flow cytometry - comparison with the Kleihauer-Betke's slide method
Published in International journal of laboratory hematology (01-12-2007)“…Summary Adult F cell numbers are raised in inherited haemoglobin disorders, such as β‐thalassaemia and sickle cell anaemia, hereditary persistence of foetal…”
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