Amit Sharma

All India Institute of Medical Sciences | AIIMS · Department of Haematology

Antithrombin (AT) deficiency is a rare but strong risk factor for the thrombosis development. Mutations in gene encoding AT (SERPINC1) have provided a detailed understanding of AT deficiency and subsequent development of thrombotic complications. In the present study, we describe a case of thrombotic patient with reduced AT activity and normal AT a...

Introduction: In sickle cell disease (SCD) patients, among the predictors of survival, HbF levels play a significant role in lowering the morbidity and mortality. Coinheritance of δβ thalassemia and hereditary persistence of fetal hemoglobin (HPFH) may contribute to variable HbF levels in SCD patients, thus influencing their clinicopathological pro...

A young Indian female visited hospital as a suspected case of thrombotic thrombocytopenic purpura (TTP) with relapsed thrombotic complications with low platelet counts, infarct in middle cerebral artery and thrombi in microvessels. We first confirmed the deficiency of ADAMTS13 metalloprotease in this patient showing improper cleavage of vWF multime...

Congenital FXIII deficiency is a rare bleeding disorder in which mutations are detected in F13A1 and F13B genes that express the two subunits of coagulation FXIII, the catalytic FXIII-A, and protective FXIII-B. Mutations in FXIII-B subunit are considerably rarer compared to FXIII-A. Three mutations in the F13B gene have been reported on its structu...

Deep vein thrombosis (DVT) is multifactorial disorder and well known to cause substantial morbidity and mortality. There is sparse data in the Asian population, particularly India regarding association of tissue factor (TF) gene single nucleotide polymorphisms (SNPs) with plasma TF levels in DVT. So, we analyzed the distribution of SNPs (603A>G and...

Objectives: To evaluate the association of interleukin 6 (IL-6) levels with deep vein thrombosis (DVT) and to assess the impact of IL-6 promoter polymorphisms (−174G > C, −572G > C and −597G > A) on its plasma levels and their influence in the development of DVT in India. Methods: One hundred DVT patients and 100 age and sex-matched healthy control...

Background and objectives: Coinheritance of δβ thalassemia and HPFH with inherited factors is sparsely documented and may affect treatment modalities. So, we screened the presence of α deletion and β mutations in δβ thalassemia and HPFH disorders in 52 cases with high Hb F concentration. Material and methods: Fifty-two individuals with raised HbF l...

Low plasma TFPI levels have been associated with an increased risk of DVT; however its association with TFPI gene polymorphisms is controversial and not yet studied in India. The aim of our study was to analyze prevalence of TFPI gene polymorphisms, evaluate their effects on its plasma levels and determine its association with DVT. Plasma level and...

Resistance to APC (APCR) is a very important cause of thrombophilia and most frequently caused by the Leiden mutation. APCR is also seen in the absence of FV Leiden and associated with elevated levels of factor V (FV), factor VIII (FVIII) and antiphospholipid antibodies (APLAs). The aim of this prospective case control study was to find out the fre...

Involvement of the tongue by amyloid is mostly secondary to systemic amyloidosis, with less than 9% of all types of amyloidosis presenting as isolated amyloidosis of the tongue. This is a case report of a 56-year-old patient who presented with mass lesion in the posterior part of tongue since 2 years duration. Magnetic resonance imaging revealed no...

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 identif...

Phenotypic resistance to activated protein C (APC) is a complex mechanism associated with increased thrombosis risk. Activated protein C resistance (APCR) is mainly influenced by FVLeiden mutation, and various other single nucleotide polymorphisms (SNPs) in FV gene are known to be associated with APCR. The aim of present study was to investigate th...

Phenotypic resistance to APC is a complex mechanism associated with increased risk of venous thrombosis in women with recurrent spontaneous abortions. The primary aim of this prospective case control study was to find out the frequencies of different congenital and acquired thrombophilic factors predisposing to APC resistance and to evaluate the st...

Antithrombin III (AT) is the main inhibitor of blood coagulation proteases like thrombin and factor Xa. In this study we report the identification and characterization of several variants of AT for the first time in Indian population. We screened 1950 deep vein thrombosis (DVT) patients for AT activity and antigen levels. DNA sequencing was further...

Venous thromboembolism is known to be a complex interaction of genetic and acquired factors leading to thrombosis. JAK2V617F mutation is believed to contribute to a thrombophilic phenotype, possibly through enhanced leukocyte-platelet interactions in myeloproliferative neoplasms (MPNs). Several studies have focused on the importance of screening fo...

Recurrent pregnancy loss (RPL) can be caused due to diverse factors with thrombophilia being one of them. The association of various thrombophilic risk factors with RPL is inconsistent in different studies and the frequency of these risk factors in Indian population is obscure. Five hundred and eighty patients with either recurrent early miscarriag...

The purpose of this study was to characterize differences in the prevalence of hereditary and acquired thrombophilia in patients with splanchnic vein thrombosis (SVT). A total of 88 consecutive patients with SVT, including Budd Chiari Syndrome (n = 47) and portal extrahepatic portal vein obstruction (n = 41), underwent comprehensive thrombophilia t...

The purpose of this study was to characterize differences in the prevalence of hereditary and acquired thrombophilia in patients with splanchnic vein thrombosis (SVT). A total of 88 consecutive patients with SVT, including Budd Chiari Syndrome (n = 47) and portal extrahepatic portal vein obstruction (n = 41), underwent comprehensive thrombophilia t...

Blood biochemistry has significant effect on pathophysiology of human body. Recently few studies found the association of biochemical abnormalities in sickle cell patients. Sickle cell disease showed clinical variability where African ancestors have severe phenotype than Indian sicklers. Our aim was to evaluate the biochemicals in sickle cell patie...

Endothelium derived nitric oxide is formed from l-arginine by endothelial nitric oxide synthase encoded by the nitric oxide synthase 3 (NOS3) gene. Nitric oxide possesses a variety of protective effects on endothelial cells and therefore NOS3 is a logical candidate gene to be investigated for the susceptibility of deep vein thrombosis (DVT). One hu...

PfNapS gene knockout analysis.

Phylogenetic tree of NAPs from various species showing greater evolutionary distance of malaria parasite NAPs from homologs in yeast and man (indicated by red arrows).

Structure-based sequence alignment of PfNapS with its homologs from Plasmodium and other apicomplexans. Residues that are identical and conserved within PfNapS and its homologs are colored red and green respectively. The histone binding residues from hSET and PfNapL mutagenesis experiments are shown in shaded box colored cyan and green respectively...

Protein interacting partners of PfNapS based upon yeast two-hybrid data are shown which need further experimental validation. Proteins are marked based upon their predicted localization - nuclear or cytoplasmic wherever possible.

List of Pf-aaRSs categorized into class I, class II, and related proteins. Gene ID, gene location, description of product and its length are given.

A number of prothrombotic and fibrinolytic disorders may lead to venous thrombosis. A 4G/5G polymorphism located in the promoter region of plasminogen activator inhibitor-1 (PAI-1) gene has been found to be commonly associated with the levels of PAI-1 and might be a risk factor for deep vein thrombosis (DVT). The aim of this study was to look for t...

Structure-based sequence alignment of CSA-binding DBL domains from A4 and 3D7 var2CSA. The data provided shows structure-based sequence alignment of CSA-binding DBL domains from A4 and 3D7 var2CSA highlighting the surface identical/conserved residues.

Final sequence boundaries defined for the var2CSA CSA-binding DBL domains. The data provided shows final sequence boundaries defined for all the CSA-binding DBL domains from A4 and 3D7 strains.

Sequence alignment of A4 DBL 3X (PDB code: 3BQK) and 3D7 DBL 3X domains. The data provided shows sequence alignment of A4 DBL 3X (PDB code: 3BQK) and 3D7 DBL 3X domains. The disulfide linkages of A4 DBL 3X structure are colored in pairs.