Renu Saxena | AIIMS - Academia.edu (original) (raw)

Papers by Renu Saxena

Research paper thumbnail of Thalassemia, protein C, protein S and infarct: correlation?

Indian journal of pediatrics, 2010

Research paper thumbnail of Comparative analysis of the Sokal, Euro and European Treatment and Outcome Study score in prognostication of Indian chronic myeloid leukemia-chronic phase patients on imatinib

South Asian Journal of Cancer, 2018

Introduction: The ultimate goal for CML management is risk stratification of the patients to desi... more Introduction: The ultimate goal for CML management is risk stratification of the patients to design the appropriate treatment approach. The Sokal, Euro and EUTOS risk scores were established to prognosticate the patients on therapy. Aim: To perform a comparative assessment of the Sokal, Euro and EUTOS prognostic score in Indian CML-CP patients on imatinib. Methods: This is a retrospective study performed in 260 Ph+ CML-CP patients who were administered oral imatinib (400 mg/day). Results: 166/260 were males and 94/260 were females (M: F::1.6:1) with median age 35 years (range 20-70). 92 (35.38%), 125 (48.07%) and 43 (16.5%) patients were divided into low, intermediate and high risk Sokal score respectively. 102 (39.23%), 106 (40.76%) and 52 (20%) patients were discriminated into low, intermediate and high risk Euro score respectively. 210 (80.7%) and 50 (19.2%) patients were divided into low and high risk EUTOS score. Cumulative incidence of MMR for low, intermediate and high-risk S...

Research paper thumbnail of Utility of Labile Plasma Iron Assay in Thalassemia Major Patients

Indian Journal of Hematology and Blood Transfusion, 2019

Research paper thumbnail of Factor VII deficiency - an enigma; clinicohematological profile in 12 cases

Hematology (Amsterdam, Netherlands), Jan 7, 2018

Factor VII deficiency is the commonest of the rare bleeding disorders with limited knowledge on c... more Factor VII deficiency is the commonest of the rare bleeding disorders with limited knowledge on clinical profile. The objective of this study was to study the prevalence and clinico-hematological profile of factor VII-deficient patients. It is a retrospective observational study of probable inherited factor VII deficiency covering 18 months. Their clinical profile, family history, investigation and treatment records were studied in detail. The study group comprised of total 12 factor VII deficiency cases with mean age of 17.5 years of onset of symptoms. The commonest symptom was menorrhagia (41.6%) followed by epistaxis (25%) and easy bruisability (16.6%). These 12 patients when categorized according to bleeding severity: severe bleeding - 2, moderate bleeding - 3, mild bleeding - 6 and asymptomatic - 1. All cases had prolonged prothrombin time (PT) with mean PT of 35.4 seconds (range 18-50 seconds) and mean prolongation of PT from upper limit of normal - 19.4 seconds (range 2-34 se...

Research paper thumbnail of Flow cytometric analysis of patients with hereditary spherocytosis – an Indian scenario

Hematology, 2017

Objectives: Flow cytometry osmotic fragility test (FC-OFT) was a recently introduced screening te... more Objectives: Flow cytometry osmotic fragility test (FC-OFT) was a recently introduced screening test for hereditary spherocytosis (HS). This study was conducted to evaluate the utility of FC-OFT in all newly diagnosed cases of HS, to compare its diagnostic value with conventional OFT and to correlate with clinical disease severity. Methods: In this study, the percentage of residual red cells (%RRC) was measured using flow cytometer after creating a red cell suspension. Subsequently, this was spiked with deionized water for FC-OFT in all cases of HS (n = 40), healthy subjects (n = 40) and beta-thalassemia traits (BTT) (n = 20). Results: The receiver operator curve analysis defined the optimal cutoffs for FC-OFT-derived indices, such as %RRC value (≤16.29%) and %RRC ratio (>1.72), for HS cases when compared with healthy subjects and BTT (p < 0.05). The FC-OFT (96%) achieved higher test efficiency than the conventional OF test (68.9%). A significant positive and a negative correlation were found between number of spherocytes/hpf and %RRC ratio (p = 0.001) and %RRC values (p = 0.0486). No significant correlation was observed between %RRC value (p = 0.8934), %RRC ratio (p = 0.6348) and HS disease severity score. Conclusion: Our results suggest that FC-OFT could be the better screening test for HS cases in developing countries if flow cytometer is available.

Research paper thumbnail of C1236T polymorphism in MDR1 gene correlates with therapeutic response to imatinib mesylate in Indian patients with chronic myeloid leukaemia

The National medical journal of India

Patients with chronic myeloid leukaemia show an excellent response to treatment with imatinib. Ho... more Patients with chronic myeloid leukaemia show an excellent response to treatment with imatinib. However, in some patients, the disease is resistant to imatinib. This resistance may be related to the presence of genetic variations on the drug's pharmacokinetics and metabolism. We therefore studied three polymorphisms (C1236T, G2677T and C3435T) in the human multidrug-resistance gene (MDR1) in 86 patients with chronic myeloid leukaemia treated with imatinib. Imatinib resistance was more frequent in patients with TT genotype at locus 1236 than in those with CT/CC genotypes (p=0.003). For the other two loci (G2677T and C3435T), resistance was seen to be higher for TT genotype when compared to GG/GT and CT/CC but it was not statistically significant (p=0.13 and p=0.099). In conclusion, determination of C1236T MDR1 genotype may help to predict response to imatinib therapy in patients with chronic myeloid leukaemia.

Research paper thumbnail of Identification of 2 Novel Polymorphisms and rs3138521 in 5' Untranslated Region of SERPINC1 Gene in North Indian Population With Deep Vein Thrombosis

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, Jan 8, 2016

Antithrombin III (AT) is the most important endogenous anticoagulant, and genetic variability in ... more Antithrombin III (AT) is the most important endogenous anticoagulant, and genetic variability in SERPINC1, gene encoding AT, is low. Mutations leading to AT deficiency and increased thrombotic risk are well known; however, only 2 studies have reported mutations in regulatory region of SERPINC1 gene till date. Aim of the present study was to identify genetic variations in SERPINC1 5' untranslated region (UTR) in Indian patients with deep vein thrombosis (DVT) having AT deficiency. DNA sequencing was used to identify underlying genetic defects in SERPINC1 regulatory region. In silico tools TFBIND and PROMO were used to identify transcription factor binding sites in the promoter region. We have identified 2 novel polymorphisms, g.25G>A and g.-1A>T, and 2 known…

Research paper thumbnail of Evaluation of the Diagnostic Performance of Fibrin Monomer in Comparison to d-Dimer in Patients With Overt and Nonovert Disseminated Intravascular Coagulation

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, Jan 15, 2015

Disseminated intravascular coagulation (DIC) is a thrombohemorrhagic disorder characterized by hy... more Disseminated intravascular coagulation (DIC) is a thrombohemorrhagic disorder characterized by hyperactivation of coagulation and secondary fibrinolysis. The primary aim of this prospective study was to evaluate and compare the diagnostic performance of fibrin monomer (FM) and d-dimer (DD) for the preemptive diagnosis of DIC in the early stages. The patients were categorized into 3 groups: overt DIC, nonovert DIC, and non-DIC based on the International Society of Thrombosis and Hemostasis scoring for overt DIC and the modified nonovert-DIC criteria. Coagulation tests were performed on freshly obtained plasma. Quantitative determination of FM and DD was done by immunoturbidimetric assay. Median DD and FM levels in patients with overt DIC were significantly higher in comparison to the other 2 groups. Interestingly, unlike DD, the difference in FM levels was also found to be statistically significant between patients with nonovert DIC and non-DIC patients (P = .0001). At receiver-opera...

Research paper thumbnail of Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum

Korean Journal of Pediatrics, 2014

Research paper thumbnail of Osteonecrosis and leg ulceration in Indian sickle cell patients

Indian journal of pediatrics, 2012

Research paper thumbnail of Modulating Effect of the -158 γ (C→T) Xmn1 Polymorphism in Indian Sickle Cell Patients

Mediterranean journal of hematology and infectious diseases, 2012

Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inhe... more Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and Sickle Cell Diseases contributes to a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn1 polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. 60 sickle homozygous and 75 sickle beta thalassemia patients were included and 5 ml blood sample was collected from them. Screening of sickle patients was done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model) was used to analyze the Complete Blood Count of patients. Xmn1 polymorphism analysis was done by PCR-RFLP and one-way ANOVA test was applied to analysis of variance between groups. Among the sickle patients 27 were heterozygous (+/-) and 19 were homozygous (+/+) while 30 were heterozygous (+/-) and 24 were homozygous (+/+) in sickle β-thalassemia patients. Extremely significant difference...

Research paper thumbnail of Effect of ANXA2 gene single nucleotide polymorphism (SNP) on the development of osteonecrosis in Indian sickle cell patient: a PCR-RFLP approach

Indian journal of experimental biology, 2012

Osteonecrosis is a serious complication in sickle cell patients. The common sites of the necrosis... more Osteonecrosis is a serious complication in sickle cell patients. The common sites of the necrosis are femoral head, head of the humerus and acetabulam. Annexin A2 (ANXA2) protein mainly functions in bone formation and bone resorption. Alteration of ANXA2 gene may affect the manifestations of osteonecrosis in the patients. PCR-RFLP is a common applicable technique for the detection of known mutation/polymorphisms. Here we are presenting application of the PCR-RFLP technique for determination of the ANXA2 gene single nucleotide polymorphism frequency and their clinical association among Indian sickle cell patients. Five known SNPs of ANXA2 gene (rs7170178, rs73435133, rs73418020, rs72746635 and rs73418025) were determined using the HpyCH4V, DdeI, HpyCH4III and Sau 961 restriction enzyme respectively. Restriction enzyme DdeI was common for rs73435133 and rs72746635 SNP. Only the rs7170178 SNP was detected among patient and control and the other four SNPs were absent in the studied grou...

Research paper thumbnail of Aberrant myeloid antigen co-expression is correlated with high percentages of CD34-positive cells among blasts of acute lymphoblastic leukemia patients: an Indian tertiary care center perspective

Blood Research, 2014

Conclusion We observed a strong correlation between aberrant MA expression and CD34 high expressi... more Conclusion We observed a strong correlation between aberrant MA expression and CD34 high expression on the blasts of ALL. We hypothesize that these different patient subsets may represent unique prognostic characteristics.

Research paper thumbnail of Haematological & molecular profile of acute myelogenous leukaemia in India

The Indian journal of medical research, 2009

Recurrent balanced translocations are generally recognized to be a major parameter for prognostic... more Recurrent balanced translocations are generally recognized to be a major parameter for prognostication in acute myeloid leukaemia (AML). The chromosomal translocation t(15;17) results in PML/RARalpha fusion gene, t(8;21) results in AML1/ETO fusion gene and Inv 16 generates CBFbeta/MYH11 fusion gene. Patients with these mutations have a good prognosis unlike abnormalities in chromosome 5 or 7 or FLT3 genes. Therefore, we screened the AmL patients for known specific genetic abnormalities that could lead to more definitive prognoses. A total of 113 AML patients were evaluated at diagnosis based on routine morphology and cytochemistry and classified according to the WHO criteria. The distribution of AML subtypes was M1(1), M2(32), M3(57), M4(14), M5(1), M6(1) and seven cases where morphological subtype could not be classified. RT-PCR was performed to identify PML/RARalpha, AML1/ETO, CBFbeta/MYH11 and FLT3 nternal tandem duplication (ITD). Of the 57 patients with M3 subtype, 55 had the P...

Research paper thumbnail of Clinical Profile of Patients with Rare Inherited Coagulation Disorders: A Retrospective Analysis of 67 Patients from Northern India

Mediterranean Journal of Hematology and Infectious Diseases, 2012

Research paper thumbnail of Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients

Sao Paulo Medical Journal, 2012

CONTEXT AND OBJECTIVE: Hemoglobin (Hb) D hemoglobinopathies are widespread diseases in northweste... more CONTEXT AND OBJECTIVE: Hemoglobin (Hb) D hemoglobinopathies are widespread diseases in northwestern India and usually present with mild hemolytic anemia and mild to moderate splenomegaly. The heterozygous form of Hb D is clinically silent, but coinheritance of Hb D with Hb S or beta-thalassemia produces clinically significant conditions like thalassemia intermedia of moderate severity. Under heterozygous conditions with coinheritance of alpha and beta-thalassemia, patients show a degree of clinical variability. Thus, our aim was to molecularly characterize the Hb D trait among individuals who were clinically symptomatic because of co-inheritance of alpha deletions or any beta-globin gene mutations. DESIGN AND SETTING: This was a cross-sectional study conducted in an autonomous tertiary-care hospital. METHODS: Complete blood count and red cell indices were measured using an automated cell analyzer. Quantitative assessment of hemoglobin Hb F, Hb A, Hb A2 and Hb D was performed by mean...

Research paper thumbnail of Pelvic Alveolar Rhabdomyosarcoma with Bone Marrow Involvement Misdiagnosed as Acute Myeloid Leukemia

Pediatric Hematology-Oncology, 2007

Research paper thumbnail of Sudan black B positive acute lymphocytic leukemia

Medical Journal Armed Forces India, 2004

Research paper thumbnail of Re-evaluation of Need for Bone Marrow Examination in Patients with Isolated Thrombocytopenia Contributors

Indian Journal of Hematology and Blood Transfusion, 2015

Diagnosis of immune thrombocytopenia (ITP) is based on clinical suspicion and normal peripheral s... more Diagnosis of immune thrombocytopenia (ITP) is based on clinical suspicion and normal peripheral smear except for thrombocytopenia. Bone marrow examination is carried out to rule out leukemia, myelodysplastic syndrome or aplastic anemia. However, in most cases, clinical diagnosis is not altered after the bone marrow reports. Hence, this present study was carried out to evaluate the justification for bone marrow examination in the setting of isolated thrombocytopenia. All patients presenting to the hematology OPD with isolated thrombocytopenia and suspected diagnosis of ITP, between October 2011 and April 2013, were included in the study. Data was collected from bone marrow reports and outpatient records. A total of 353 cases were found. 319 cases had features of typical ITP and the rest had some form of organomegaly and/or lymphadenopathy. Bone marrow examination in all cases revealed normal hematopoietic elements and prominence of megakaryocytes including juvenile forms with no novel diagnosis in any patient. Routine use of bone marrow examination in the diagnostic workup of isolated thrombocytopenia is not required in our center even if steroids are planned as a first line therapy. However, a detailed history, thorough examination with complete hemogram and peripheral smear examination are essential.

Research paper thumbnail of Pathogenesis & Laboratory approach to Thrombophilia

Eastern Journal of Medicine, 2009

Abstract. Thrombophilia is a term used for any hypercoagulable state, either inherited or acquire... more Abstract. Thrombophilia is a term used for any hypercoagulable state, either inherited or acquired. The former is considered after excluding acquired predisposing causes like trauma, immobility, Dirseminated inta vascular cuagulation, pregnancy and anitphospholipid syndrome etc. It frequently results from interplay of genetic and acquired factors. An individual’s risk for DVT would be determined by the combination of his or her baseline propensity for thrombosis and the magnitude of the acute insult. Inherited hypercoagulable states may be secondary to deficiency of natural clotting inhibitors or elevated procoagulants or increased fibrinolytic factors . Amongst these, activated protein C resistance, is the commonest underlying cause .Testing for thrombophilia is best performed in stages. Highest-yield assays (screening tests) should be performed first and, if positive, should be followed by appropriate confirmatory tests. Cornerstone of initial treatment is heparin, either unfract...

Research paper thumbnail of Thalassemia, protein C, protein S and infarct: correlation?

Indian journal of pediatrics, 2010

Research paper thumbnail of Comparative analysis of the Sokal, Euro and European Treatment and Outcome Study score in prognostication of Indian chronic myeloid leukemia-chronic phase patients on imatinib

South Asian Journal of Cancer, 2018

Introduction: The ultimate goal for CML management is risk stratification of the patients to desi... more Introduction: The ultimate goal for CML management is risk stratification of the patients to design the appropriate treatment approach. The Sokal, Euro and EUTOS risk scores were established to prognosticate the patients on therapy. Aim: To perform a comparative assessment of the Sokal, Euro and EUTOS prognostic score in Indian CML-CP patients on imatinib. Methods: This is a retrospective study performed in 260 Ph+ CML-CP patients who were administered oral imatinib (400 mg/day). Results: 166/260 were males and 94/260 were females (M: F::1.6:1) with median age 35 years (range 20-70). 92 (35.38%), 125 (48.07%) and 43 (16.5%) patients were divided into low, intermediate and high risk Sokal score respectively. 102 (39.23%), 106 (40.76%) and 52 (20%) patients were discriminated into low, intermediate and high risk Euro score respectively. 210 (80.7%) and 50 (19.2%) patients were divided into low and high risk EUTOS score. Cumulative incidence of MMR for low, intermediate and high-risk S...

Research paper thumbnail of Utility of Labile Plasma Iron Assay in Thalassemia Major Patients

Indian Journal of Hematology and Blood Transfusion, 2019

Research paper thumbnail of Factor VII deficiency - an enigma; clinicohematological profile in 12 cases

Hematology (Amsterdam, Netherlands), Jan 7, 2018

Factor VII deficiency is the commonest of the rare bleeding disorders with limited knowledge on c... more Factor VII deficiency is the commonest of the rare bleeding disorders with limited knowledge on clinical profile. The objective of this study was to study the prevalence and clinico-hematological profile of factor VII-deficient patients. It is a retrospective observational study of probable inherited factor VII deficiency covering 18 months. Their clinical profile, family history, investigation and treatment records were studied in detail. The study group comprised of total 12 factor VII deficiency cases with mean age of 17.5 years of onset of symptoms. The commonest symptom was menorrhagia (41.6%) followed by epistaxis (25%) and easy bruisability (16.6%). These 12 patients when categorized according to bleeding severity: severe bleeding - 2, moderate bleeding - 3, mild bleeding - 6 and asymptomatic - 1. All cases had prolonged prothrombin time (PT) with mean PT of 35.4 seconds (range 18-50 seconds) and mean prolongation of PT from upper limit of normal - 19.4 seconds (range 2-34 se...

Research paper thumbnail of Flow cytometric analysis of patients with hereditary spherocytosis – an Indian scenario

Hematology, 2017

Objectives: Flow cytometry osmotic fragility test (FC-OFT) was a recently introduced screening te... more Objectives: Flow cytometry osmotic fragility test (FC-OFT) was a recently introduced screening test for hereditary spherocytosis (HS). This study was conducted to evaluate the utility of FC-OFT in all newly diagnosed cases of HS, to compare its diagnostic value with conventional OFT and to correlate with clinical disease severity. Methods: In this study, the percentage of residual red cells (%RRC) was measured using flow cytometer after creating a red cell suspension. Subsequently, this was spiked with deionized water for FC-OFT in all cases of HS (n = 40), healthy subjects (n = 40) and beta-thalassemia traits (BTT) (n = 20). Results: The receiver operator curve analysis defined the optimal cutoffs for FC-OFT-derived indices, such as %RRC value (≤16.29%) and %RRC ratio (>1.72), for HS cases when compared with healthy subjects and BTT (p < 0.05). The FC-OFT (96%) achieved higher test efficiency than the conventional OF test (68.9%). A significant positive and a negative correlation were found between number of spherocytes/hpf and %RRC ratio (p = 0.001) and %RRC values (p = 0.0486). No significant correlation was observed between %RRC value (p = 0.8934), %RRC ratio (p = 0.6348) and HS disease severity score. Conclusion: Our results suggest that FC-OFT could be the better screening test for HS cases in developing countries if flow cytometer is available.

Research paper thumbnail of C1236T polymorphism in MDR1 gene correlates with therapeutic response to imatinib mesylate in Indian patients with chronic myeloid leukaemia

The National medical journal of India

Patients with chronic myeloid leukaemia show an excellent response to treatment with imatinib. Ho... more Patients with chronic myeloid leukaemia show an excellent response to treatment with imatinib. However, in some patients, the disease is resistant to imatinib. This resistance may be related to the presence of genetic variations on the drug's pharmacokinetics and metabolism. We therefore studied three polymorphisms (C1236T, G2677T and C3435T) in the human multidrug-resistance gene (MDR1) in 86 patients with chronic myeloid leukaemia treated with imatinib. Imatinib resistance was more frequent in patients with TT genotype at locus 1236 than in those with CT/CC genotypes (p=0.003). For the other two loci (G2677T and C3435T), resistance was seen to be higher for TT genotype when compared to GG/GT and CT/CC but it was not statistically significant (p=0.13 and p=0.099). In conclusion, determination of C1236T MDR1 genotype may help to predict response to imatinib therapy in patients with chronic myeloid leukaemia.

Research paper thumbnail of Identification of 2 Novel Polymorphisms and rs3138521 in 5' Untranslated Region of SERPINC1 Gene in North Indian Population With Deep Vein Thrombosis

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, Jan 8, 2016

Antithrombin III (AT) is the most important endogenous anticoagulant, and genetic variability in ... more Antithrombin III (AT) is the most important endogenous anticoagulant, and genetic variability in SERPINC1, gene encoding AT, is low. Mutations leading to AT deficiency and increased thrombotic risk are well known; however, only 2 studies have reported mutations in regulatory region of SERPINC1 gene till date. Aim of the present study was to identify genetic variations in SERPINC1 5' untranslated region (UTR) in Indian patients with deep vein thrombosis (DVT) having AT deficiency. DNA sequencing was used to identify underlying genetic defects in SERPINC1 regulatory region. In silico tools TFBIND and PROMO were used to identify transcription factor binding sites in the promoter region. We have identified 2 novel polymorphisms, g.25G>A and g.-1A>T, and 2 known…

Research paper thumbnail of Evaluation of the Diagnostic Performance of Fibrin Monomer in Comparison to d-Dimer in Patients With Overt and Nonovert Disseminated Intravascular Coagulation

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, Jan 15, 2015

Disseminated intravascular coagulation (DIC) is a thrombohemorrhagic disorder characterized by hy... more Disseminated intravascular coagulation (DIC) is a thrombohemorrhagic disorder characterized by hyperactivation of coagulation and secondary fibrinolysis. The primary aim of this prospective study was to evaluate and compare the diagnostic performance of fibrin monomer (FM) and d-dimer (DD) for the preemptive diagnosis of DIC in the early stages. The patients were categorized into 3 groups: overt DIC, nonovert DIC, and non-DIC based on the International Society of Thrombosis and Hemostasis scoring for overt DIC and the modified nonovert-DIC criteria. Coagulation tests were performed on freshly obtained plasma. Quantitative determination of FM and DD was done by immunoturbidimetric assay. Median DD and FM levels in patients with overt DIC were significantly higher in comparison to the other 2 groups. Interestingly, unlike DD, the difference in FM levels was also found to be statistically significant between patients with nonovert DIC and non-DIC patients (P = .0001). At receiver-opera...

Research paper thumbnail of Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum

Korean Journal of Pediatrics, 2014

Research paper thumbnail of Osteonecrosis and leg ulceration in Indian sickle cell patients

Indian journal of pediatrics, 2012

Research paper thumbnail of Modulating Effect of the -158 γ (C→T) Xmn1 Polymorphism in Indian Sickle Cell Patients

Mediterranean journal of hematology and infectious diseases, 2012

Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inhe... more Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and Sickle Cell Diseases contributes to a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn1 polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. 60 sickle homozygous and 75 sickle beta thalassemia patients were included and 5 ml blood sample was collected from them. Screening of sickle patients was done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model) was used to analyze the Complete Blood Count of patients. Xmn1 polymorphism analysis was done by PCR-RFLP and one-way ANOVA test was applied to analysis of variance between groups. Among the sickle patients 27 were heterozygous (+/-) and 19 were homozygous (+/+) while 30 were heterozygous (+/-) and 24 were homozygous (+/+) in sickle β-thalassemia patients. Extremely significant difference...

Research paper thumbnail of Effect of ANXA2 gene single nucleotide polymorphism (SNP) on the development of osteonecrosis in Indian sickle cell patient: a PCR-RFLP approach

Indian journal of experimental biology, 2012

Osteonecrosis is a serious complication in sickle cell patients. The common sites of the necrosis... more Osteonecrosis is a serious complication in sickle cell patients. The common sites of the necrosis are femoral head, head of the humerus and acetabulam. Annexin A2 (ANXA2) protein mainly functions in bone formation and bone resorption. Alteration of ANXA2 gene may affect the manifestations of osteonecrosis in the patients. PCR-RFLP is a common applicable technique for the detection of known mutation/polymorphisms. Here we are presenting application of the PCR-RFLP technique for determination of the ANXA2 gene single nucleotide polymorphism frequency and their clinical association among Indian sickle cell patients. Five known SNPs of ANXA2 gene (rs7170178, rs73435133, rs73418020, rs72746635 and rs73418025) were determined using the HpyCH4V, DdeI, HpyCH4III and Sau 961 restriction enzyme respectively. Restriction enzyme DdeI was common for rs73435133 and rs72746635 SNP. Only the rs7170178 SNP was detected among patient and control and the other four SNPs were absent in the studied grou...

Research paper thumbnail of Aberrant myeloid antigen co-expression is correlated with high percentages of CD34-positive cells among blasts of acute lymphoblastic leukemia patients: an Indian tertiary care center perspective

Blood Research, 2014

Conclusion We observed a strong correlation between aberrant MA expression and CD34 high expressi... more Conclusion We observed a strong correlation between aberrant MA expression and CD34 high expression on the blasts of ALL. We hypothesize that these different patient subsets may represent unique prognostic characteristics.

Research paper thumbnail of Haematological & molecular profile of acute myelogenous leukaemia in India

The Indian journal of medical research, 2009

Recurrent balanced translocations are generally recognized to be a major parameter for prognostic... more Recurrent balanced translocations are generally recognized to be a major parameter for prognostication in acute myeloid leukaemia (AML). The chromosomal translocation t(15;17) results in PML/RARalpha fusion gene, t(8;21) results in AML1/ETO fusion gene and Inv 16 generates CBFbeta/MYH11 fusion gene. Patients with these mutations have a good prognosis unlike abnormalities in chromosome 5 or 7 or FLT3 genes. Therefore, we screened the AmL patients for known specific genetic abnormalities that could lead to more definitive prognoses. A total of 113 AML patients were evaluated at diagnosis based on routine morphology and cytochemistry and classified according to the WHO criteria. The distribution of AML subtypes was M1(1), M2(32), M3(57), M4(14), M5(1), M6(1) and seven cases where morphological subtype could not be classified. RT-PCR was performed to identify PML/RARalpha, AML1/ETO, CBFbeta/MYH11 and FLT3 nternal tandem duplication (ITD). Of the 57 patients with M3 subtype, 55 had the P...

Research paper thumbnail of Clinical Profile of Patients with Rare Inherited Coagulation Disorders: A Retrospective Analysis of 67 Patients from Northern India

Mediterranean Journal of Hematology and Infectious Diseases, 2012

Research paper thumbnail of Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients

Sao Paulo Medical Journal, 2012

CONTEXT AND OBJECTIVE: Hemoglobin (Hb) D hemoglobinopathies are widespread diseases in northweste... more CONTEXT AND OBJECTIVE: Hemoglobin (Hb) D hemoglobinopathies are widespread diseases in northwestern India and usually present with mild hemolytic anemia and mild to moderate splenomegaly. The heterozygous form of Hb D is clinically silent, but coinheritance of Hb D with Hb S or beta-thalassemia produces clinically significant conditions like thalassemia intermedia of moderate severity. Under heterozygous conditions with coinheritance of alpha and beta-thalassemia, patients show a degree of clinical variability. Thus, our aim was to molecularly characterize the Hb D trait among individuals who were clinically symptomatic because of co-inheritance of alpha deletions or any beta-globin gene mutations. DESIGN AND SETTING: This was a cross-sectional study conducted in an autonomous tertiary-care hospital. METHODS: Complete blood count and red cell indices were measured using an automated cell analyzer. Quantitative assessment of hemoglobin Hb F, Hb A, Hb A2 and Hb D was performed by mean...

Research paper thumbnail of Pelvic Alveolar Rhabdomyosarcoma with Bone Marrow Involvement Misdiagnosed as Acute Myeloid Leukemia

Pediatric Hematology-Oncology, 2007

Research paper thumbnail of Sudan black B positive acute lymphocytic leukemia

Medical Journal Armed Forces India, 2004

Research paper thumbnail of Re-evaluation of Need for Bone Marrow Examination in Patients with Isolated Thrombocytopenia Contributors

Indian Journal of Hematology and Blood Transfusion, 2015

Diagnosis of immune thrombocytopenia (ITP) is based on clinical suspicion and normal peripheral s... more Diagnosis of immune thrombocytopenia (ITP) is based on clinical suspicion and normal peripheral smear except for thrombocytopenia. Bone marrow examination is carried out to rule out leukemia, myelodysplastic syndrome or aplastic anemia. However, in most cases, clinical diagnosis is not altered after the bone marrow reports. Hence, this present study was carried out to evaluate the justification for bone marrow examination in the setting of isolated thrombocytopenia. All patients presenting to the hematology OPD with isolated thrombocytopenia and suspected diagnosis of ITP, between October 2011 and April 2013, were included in the study. Data was collected from bone marrow reports and outpatient records. A total of 353 cases were found. 319 cases had features of typical ITP and the rest had some form of organomegaly and/or lymphadenopathy. Bone marrow examination in all cases revealed normal hematopoietic elements and prominence of megakaryocytes including juvenile forms with no novel diagnosis in any patient. Routine use of bone marrow examination in the diagnostic workup of isolated thrombocytopenia is not required in our center even if steroids are planned as a first line therapy. However, a detailed history, thorough examination with complete hemogram and peripheral smear examination are essential.

Research paper thumbnail of Pathogenesis & Laboratory approach to Thrombophilia

Eastern Journal of Medicine, 2009

Abstract. Thrombophilia is a term used for any hypercoagulable state, either inherited or acquire... more Abstract. Thrombophilia is a term used for any hypercoagulable state, either inherited or acquired. The former is considered after excluding acquired predisposing causes like trauma, immobility, Dirseminated inta vascular cuagulation, pregnancy and anitphospholipid syndrome etc. It frequently results from interplay of genetic and acquired factors. An individual’s risk for DVT would be determined by the combination of his or her baseline propensity for thrombosis and the magnitude of the acute insult. Inherited hypercoagulable states may be secondary to deficiency of natural clotting inhibitors or elevated procoagulants or increased fibrinolytic factors . Amongst these, activated protein C resistance, is the commonest underlying cause .Testing for thrombophilia is best performed in stages. Highest-yield assays (screening tests) should be performed first and, if positive, should be followed by appropriate confirmatory tests. Cornerstone of initial treatment is heparin, either unfract...