Search Results - "Sawant, Pratibha"

Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine by Hariharan, Priya, Gorivale, Manju, Sawant, Pratibha, Mehta, Pallavi, Nadkarni, Anita

“…Hemoglobinopathies though a monogenic disorder, show phenotypic variability. Hence, understanding the genetics underlying the heritable sub-phenotypes of…”
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Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India by Hariharan, Priya, Kishnani, Pooja, Sawant, Pratibha, Gorivale, Manju, Mehta, Pallavi, Kargutkar, Neha, Colah, Roshan, Nadkarni, Anita

“…Large deletions in the β-globin gene cluster lead to increased HbF levels by delaying the γ- to β-globin switch process. However, these deletions when…”
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The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center by Nadkarni, Anita H., Gorakshakar, Ajit C., Sawant, Pratibha M., Italia, Khushnooma Y., Upadhye, Dipti S., Gorivale, Manju S., Mehta, Pallavi R., Hariharan, Priya, Ghosh, Kanjaksha, Colah, Roshan B.

“…Introduction The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and…”
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The Changing Trends in Prenatal Diagnosis of Hemoglobinopathies in India: The Quest of a Single Center to Reduce the Burden of Disease over Three Decades by Colah, Roshan B., Nadkarni, Anita H., Gorakshakar, Ajit C., Sawant, Pratibha M., Mehta, Pallavi R., Gorivale, Manju S., Hariharan, Priya, Mohanty, Dipika, Ghosh, Kanjaksha

“…The β-thalassemias and sickle cell disorders pose a considerable health burden in India. Of the more than 10,000 annual births of children with a severe…”
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Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes by Mehta, Pallavi R., Upadhye, Dipti S., Sawant, Pratibha M., Gorivale, Manju S., Nadkarni, Anita H., Shanmukhaiah, Chandrakala, Ghosh, Kanjaksha, Colah, Roshan B.

“…Co-inheritance of triplicated α-genes can alter the clinical and hematological phenotypes of β-thalassemias. We evaluated the phenotypic diversity and…”
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Response to hydroxyurea in β thalassemia major and intermedia: Experience in western India by Italia, Khushnooma Y., Jijina, Farah J., Merchant, Rashid, Panjwani, Sangeeta, Nadkarni, Anita H., Sawant, Pratibha M., Nair, Sona B., Ghosh, Kanjaksha, Colah, Roshan B.

“…The clinical and hematological response to hydroxyurea was evaluated in β thalassemia patients in western India with variable clinical severity and correlated…”
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Rare β- and δ-Globin Gene Mutations in the Pathare Prabhus: Original Inhabitants of Mumbai, India by Gorakshakar, Ajit C, Breganza, Pearl V, Colaco, Stacy P, Shaikh, Roshan F, Bohra, Meenu Y, Sawant, Pratibha M, Nadkarni, Anita H, Colah, Roshan B, Ghosh, Kanjaksha K

“…Genetic structure of the Indian population is influenced by waves of several immigrants from West Eurasia. Therefore, genetic information of various ethnic…”
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Effect of hydroxyurea on the transfusion requirements in patients with severe HbE-beta-thalassaemia: a genotypic and phenotypic study by Italia, Khushnooma Y, Jijina, Farah F, Merchant, Rashid, Panjwani, Sangeeta, Nadkarni, Anita H, Sawant, Pratibha M, Nair, Sona B, Ghosh, Kanjaksha, Colah, Roshan B

“…Haemoglobin E (HbE)-beta-thalassaemia has a very variable clinical presentation. The management of severe cases that are often transfusion dependent is similar…”
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HbD Punjab/HbQ India Compound Heterozygosity: An Unusual Association by Colaco, Stacy, Surve, Reema, Sawant, Pratibha, Nadkarni, Anita, Ghosh, Kanjaksha, Colah, Roshan

“…Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. Both beta thalassaemia and structural haemoglobin variants…”
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Evaluation of the Use of Monoclonal Antibodies and Nested PCR for Noninvasive Prenatal Diagnosis of Hemoglobinopathies in India by D'SOUZA, Edna, SAWANT, Pratibha M, NADKARNI, Anita H, GORAKSHAKAR, Ajit, MOHANTY, Dipika, GHOSH, Kanjaksha, COLAH, Roshan B

“…Our purpose was to develop and evaluate isolation and enrichment of fetal erythroblasts and a nested polymerase chain reaction (PCR) approach using fetal…”
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Is the Poly A (T>C) Mutation a Causative Factor For Misdiagnosis in Second Trimester Prenatal Diagnosis of β-Thalassemia by Fetal Blood Analysis on High Performance Liquid Chromatography? by Italia, Khushnooma Y., Sawant, Pratibha M., Nadkarni, Anita H., Ghosh, Kanjaksha, Colah, Roshan B.

“…We report the problems in diagnosis faced by two families referred for prenatal diagnosis of thalassemia where cordocentesis and fetal blood analysis by high…”
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Antenatal Screening for Identification of Couples for Prenatal Diagnosis of Severe Hemoglobinopathies in Surat, South Gujarat by Bhukhanvala, Dipal S., Sorathiya, Smita M., Sawant, Pratibha, Colah, Roshan, Ghosh, Kanjaksha, Gupte, Snehalata C.

“…Purpose Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and…”
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Rapid molecular identification of a rare [beta]-globin gene deletion its clinical implication by Hariharan, Priya, Sawant, Pratibha, Sheth, Jayesh, Nadkarni, Anita

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Rapid molecular identification of a rare β-globin gene deletion & its clinical implication by Hariharan, Priya, Sawant, Pratibha, Sheth, Jayesh, Nadkarni, Anita

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Diagnostic challenges posed by a rare unstable hemoglobin variant Hb Southampton [HBB: c.320T → C] with pyrimidine 5′ nucleotidase deficiency and the response to HU therapy by Gorivale, Manju, Hariharan, Priya, Kargutkar, Neha, Mehta, Pallavi, Sawant, Pratibha, Nadkarni, Anita

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Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies by Mehta, Pallavi, Sawant, Pratibha, Gorivale, Manju, Nadkarni, Anita, Colah, Roshan, Mukherjee, Malay B.

“…Introduction The hemoglobinopathies are the commonest group of single gene disorders in the Indian subcontinent. Although genetic modifiers are known to have a…”
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Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA2 in one partner by Gorivale, Manju, Sawant, Pratibha, Mehta, Pallavi, Nadkarni, Anita, Ghosh, Kanjaksha, Colah, Roshan

“…Objectives To undertake β‐genotyping in couples having normal/borderline HbA2 levels in one partner to offer the possibility of prenatal diagnosis of…”
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Regional heterogeneity of β-thalassemia mutations in the multi ethnic Indian population by Colah, Roshan, Gorakshakar, Ajit, Nadkarni, Anita, Phanasgaonkar, Supriya, Surve, Reema, Sawant, Pratibha, Mohanty, Dipika, Ghosh, Kanjaksha

“…To determine the frequencies of β-thalassemia mutations in different states of India and to compare this with the available data in Asian Indians for a…”
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Hb E-β-Thalassemia in Five Indian States by Italia, Khushnooma, Dabke, Pooja, Sawant, Pratibha, Nadkarni, Anita, Ghosh, Kanjaksha, Colah, Roshan B.

“…Hb E [β26(B8)Glu→Lys; HBB: c.79G > A]-β-thalassemia (β-thal) has an extremely variable clinical presentation. We report the clinical features of these patients…”
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Challenges in prenatal diagnosis of beta thalassaemia: couples with normal HbA 2 in one partner: Prenatal diagnosis of β -thalassaemia in couples with normal HbA 2 in one partner by Gorivale, Manju, Sawant, Pratibha, Mehta, Pallavi, Nadkarni, Anita, Ghosh, Kanjaksha, Colah, Roshan

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