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Bhat V.S.,Manipal Hospital Diagnostic Services | Dewan K.K.,Cauvery Medical Center | Krishnaswamy P.R.,Cauvery Medical Center | Mandal A.K.,St Johns Research Institute | Balaram P.,Indian Institute of Science
Indian Journal of Clinical Biochemistry | Year: 2010

Hemoglobin Q-India (alpha) 64 Asp →His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization. Source


Bhat V.S.,Manipal Hospital Diagnostic Services | Dewan K.K.,Cauvery Medical Center | Krishnaswamy P.R.,Cauvery Medical Center
Indian Journal of Clinical Biochemistry | Year: 2010

We report a case of hemolytic anemia that was subsequently identified to be a case of α-thalassaemia harboring the common rightward 3.7 kb deletion/HbH. The diagnosis was based on sequential analyses using BioRad D10 HPLC, Alkaline gel electrophoresis, GPO α THAL-IC strips and the identification of the specific genetic lesion using an α Globin reverse dot blot hybridization assay. Supravital stain of RBCs helped in identifying classical HbH inclusions. In a background of a variable clinical presentation, lack of definitive hematological markers, and general under-diagnosis of α-thalassaemias we have used this case to highlight the features and sequence of techniques involved in identifying and characterizing an α-globin chain mutation, starting from a diffuse clinical history and presentation up to the identification of a specific genetic lesion involved. © Association of Clinical Biochemists of India 2010. Source


Bhat V.S.,Manipal Hospital Diagnostic Services | Lokeshwarappa S.,Manipal Hospital Diagnostic Services | Mandal A.K.,St Johns Research Institute
Indian Journal of Clinical Biochemistry | Year: 2015

The present case report describes the molecular and proteomic based study of Hb variant HbE associated with β+ thalassemia IVS 1-1 G>T, in a juvenile diabetic patient. Given the ethnic origin and mobility of the variant hemoglobin at alkaline pH, HbE would be suspected. But hematologically and clinically abnormality being detected, HPLC and Electrophoresis not being able to characterize due to retention time and band being in region of HbA2, respectively, further characterization of hemoglobinopathy was made using MALDI and IVS 1-1 G>T being validated by reverse dot blot hybridization. Capillary electrophoresis was also employed in order to separate HbE and HbA2 bands. This case report being first of its kind, wherein a HbE/β+ thalassemia has been characterized using multiple techniques. © 2014, Association of Clinical Biochemists of India. Source


Bhat V.S.,Manipal Hospital Diagnostic Services | Mandal A.K.,St Johns Research Institute | Mathew B.,St Johns Research Institute
Indian Journal of Clinical Biochemistry | Year: 2012

Hemoglobin J-Rajappen (alpha)90 Lys → Thr is an alpha chain variant found in heterozygous state and presents normal hematological blood picture. Due to the ambiguity in results obtained while analyzing by HPLC and alkaline gel electrophoresis, we report this rare case of HbJ-Rajappen using non denaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry. Though HbJ-Rajappen has earlier been reported using different techniques, this is the first report being validated using mass spectrometry technique. © 2012 Association of Clinical Biochemists of India. Source


Bhat V.S.,Manipal Hospital Diagnostic Services | Mandal A.K.,St Johns Research Institute | Mathew B.,St Johns Research Institute
Indian Journal of Clinical Biochemistry | Year: 2012

The present report describes the molecular study of HbD ran (beta) 22 Glu → Gln associated with β-Thalassemia IVS1-5 (G > C) found in India, and the first case in which mutation has been identified using mass spectrometry. Given the apparent ethnic origin and the mobility of the variant hemoglobin at alkaline pH, hemoglobin D-Punjab would be suspected, but HPLC excluded this possibility. Further characterization of hemoglobinopathy was made by using nondenaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry and IVS1-5 being validated by reverse dot blot hybridization followed by sequencing of the β-globin gene. © 2012 Association of Clinical Biochemists of India. Source

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