A novel nine base deletion mutation in -cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II.

Recessive hereditary methemoglobinemia (RCM) associated with severe neurological abnormalities is a very rare disorder caused by NADH- cytochrome b5 reductase (cb5r) deficiency (Type II). We report a case of 11 month old male child who had severe mental retardation, microcephaly and gross global developmental delay with methemoglobin level of 61.1%.

Differential expression of genes involved in Bengal macrothrombocytopenia (BMTCP).

Bengal macrothrombocytopenia (BMTCP) is a giant platelet disorder with mild to moderate thrombocytopenia, clinically characterized by mild bleeding symptoms to totally asymptomatic condition. The pathophysiological mechanism of this condition is not fully understood yet. In the present study, 5 subjects (P1-P5) with BMTCP whose platelet counts ranged between 36140X10(9)/l and mean platelet volume (MPV)13.

Antibody profile in Indian severe haemophilia A patients with and without FVIII inhibitors.

Diagnosis and management of haemophilia patients with inhibitors is often tricky due to the heterogeneous nature of the antibodies with regard to their kinetics, as well as the co-existence of other interfering antibodies. Plasma samples from severe haemophilia A patients from India with and without FVIII inhibitors were analysed for the presence of possible co-existing antibodies such as lupus anticoagulants (LA), anti-cardiolipin antibodies (ACLA), anti-β2-glycoprotein-I (anti-β2-GP-I) antibodies, viral transfusion transmitted disease (HIV, HBsAg, HCV) related antibodies, anti-cyclic citrullinated peptides (anti-CCP), and anti-nuclear antibodies. A high incidence of LA and anti-HCV antibodies was detected in Indian haemophilia A patients similar to earlier reports.

ICSH recommendations for assessing automated high-performance liquid chromatography and capillary electrophoresis equipment for the quantitation of HbA2.

Automated high performance liquid chromatography and Capillary electrophoresis are used to quantitate the proportion of Hemoglobin A2 (HbA2 ) in blood samples order to enable screening and diagnosis of carriers of β-thalassemia. Since there is only a very small difference in HbA2 levels between people who are carriers and people who are not carriers such analyses need to be both precise and accurate. This paper examines the different parameters of such equipment and discusses how they should be assessed.

Inherited and acquired thrombophilia in Indian women experiencing unexplained recurrent pregnancy loss.

The most frequently hypothesized cause of unexplained recurrent pregnancy loss (RPL) refers to a defective maternal haemostatic response leading to uteroplacental thrombosis. Approximately 20% women suffering from pregnancy loss (PL) are associated with autoimmune disorders and more than 50% remain idiopathic after common traditional investigations. The present study aims to investigate the prevalence of different genetic and acquired thrombophilia markers in a large series of Indian women with RPL.

Molecular understanding of Indian untransfused thalassemia intermedia.

Background: The term thalassemia intermedia describe a form of thalassemia of intermediate severity, between the major transfusion-dependent forms of the disease and the symptomless carrier states. The phenotypic diversity of β-thalassemia results from its underlying genetic diversity. The wide clinical variability of these conditions leads to major difficulties in their management.

Tyrosine kinase inhibitors: New class of antimalarials on the horizon?

Development of the antimalarial drug resistant strains has currently become a major public health challenge. There is an urgent need to develop new antimalarial drugs. Tyrosine kinase inhibitors (TKIs) are receiving increasing attention as anticancer therapy.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario.

It is believed that the tribal people, who constitute 8.6 per cent of the total population (2011 census of India), are the original inhabitants of India. Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is an X-linked genetic defect, affecting around 400 million people worldwide and is characterized by considerable biochemical and molecular heterogeneity.

Haemoglobinopathies in tribal populations of India.

Haemoglobinopathies particularly haemoglobin S and E (HbS, HbE) and β-thalassaemia are important challenges for tribal populations in India. The HbS, HbE and β-thalassaemia genes are variably distributed across various tribal populations of India. HbE is mainly restricted in tribals of North-East, West Bengal, Odisha and those in Andaman and Nicobar islands.

Promising prognostic markers of preeclampsia: new avenues in waiting.

Preeclampsia is a pregnancy related condition identified by hypertension and either proteinuria or end-organ dysfunction after 20(th) week of gestation and complicates 2-8% pregnancies worldwide. Enigmatic pathophysiology and multi-system involvement hinder accurate identification and clinical management of patients. Inadequate trophoblast invasion and subsequent inflammatory response have been implicated in the onset of PE.

Nanoimaging in cardiovascular diseases: Current state of the art.

Nanotechnology has been integrated into healthcare system in terms of diagnosis as well as therapy. The massive impact of imaging nanotechnology has a deeper intervention in cardiology i.e.

Mannose binding lectin (MBL) 2 gene polymorphism & its association with clinical manifestations in systemic lupus erythematosus (SLE) patients from western India.

Background & Objectives: Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies. Mannose binding lectin (MBL) is an important element of the innate defense system. t0 he present study was undertaken to determine whether variant alleles in MBL2 gene were associated with disease severity in SLE patients.

Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen Mumbai mutation.

Objectives: Thrombosis is rarely reported in cases of afibrinogenemia and is generally associated with thrombophilia or replacement therapy. Often, it is difficult to predict whether the patients will bleed or whether they are exposed to the risk of thrombosis.

Methods: We report a patient with afibrinogenemia who presented with complete thrombosis of right hepatic, portal, and splenic veins and who described a lifelong history of bleeding.