K Ghosh

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..The high heterozygosity of the two vWF intron 40 VNTR markers and the simplicity of the technique without much cost being involved suggest the practical feasibility of this technique in developing countries like India...

..These patients also tended to have significantly lower expression of CD34 antigen on flowcytometry. Distinct prognostic subclasses of adult AML patients were identified based on the presence of NPM1 and FLT3 mutations...

..This review summarises the prevalence, plausible mechanisms and management options of this important morbidity in PWH...

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..This is likely to tilt the ratios of different VWD types, and VWD is likely to emerge as the most common of all coagulation disorders in the near future...

..The present review broadly describes the management of various aspects of severe haemophilia in developing countries...

..Thus, in severe falciparum malaria, there is activation of blood coagulation system along with thrombocytopaenia, even before widespread DIC and coagulation failure occur...

..The patient remained in remission for 7 months, after which he relapsed and was treated with chemotherapy and electron beam radiation to the skin...

..The present case shows that antibody to VWF should be considered as a possible reason for an increased factor VIII requirement in such patients...

..4 and 76.6% of partial D by partial D kit and M-PCR, respectively. The incidence of partial D in West India was found to be at least 0.15% when tested with partial D kit. DFR partial D was found to be predominant in the present study...

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..Cooperation between chronic malarial infection and infection with E-B virus infection in producing Burkitt's lymphoma is well known. In this review, the fascinating and multifaceted pathophysiolgoy of malarial anemia has been discussed...

..This will lead to substantial financial savings in countries where up to 35% of severe haemophilia A patients develop inhibitors...

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..This study suggests a role of prior tuberculosis in precipitating SLE in genetically predisposed patients...

..The modifiable risk factors for inhibitor formation may provide the key to predict and perhaps prevent the formation of inhibitors in hemophilia patients...

..None of the patients in either group had to interrupt the therapy for any adverse treatment-related complications...

..01). In developing countries, severe and moderately severe haemophiliacs may be at a higher risk of urolithiasis because of prolonged recumbency necessitated by recurrent joint bleeds and inadequate replacement therapy...

..These cases show possible ways to manipulate the thymus gland as a management strategy for this disease...

..It is hoped that this will give the busy clinician an idea whether a search for prospective unrelated stem cell donor for an Indian patient is likely to succeed or not...

..The overall prevalence of inhibitors was thus 8.2%, which is similar to the reports from western countries, prior to the introduction of highly purified factor concentrate therapy...

..This is the first case of coinheritance of BSS and factor XI deficiency reported in the English literature...

..In tropical countries such as India, where malaria is endemic, results of serological tests should be interpreted with caution in a patient with pyrexia of unknown origin (PUO)...

..We report here on a patient with acute myeloid leukaemia showing pseudo-Chediak-Higashi inclusions in leukaemic blasts with unusual ultrastructural morphology...

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..His disease relapsed without recurrence of the capillary leak. He died 15 months after PBSCT and 20 months after the diagnosis of plasma cell leukaemia...

..The simple ELISA technique described here should be available in all routine laboratories in developing countries...

..8%) similar to that of the western countries and almost no morbidity. Surgery was not required in any of these patients except in one elderly patient with HIV infection on antiretroviral therapy...

..However, there are no quick and easy methods to assess the efficacy of the antiplatelet activity of aspirin...

..Hence, doctors need to be properly trained to become "Tuberculosis Minded"...

..8% of the patients had homozygosity for the MTHFR C677T polymorphism...

..On the other hand, the patients having auto-antibodies directed towards both GP IIb/IIIa and GP Ib/IX receptors have a severe bleeding diathesis, and usually show poor prognosis to treatment with corticosteroids...

..Our results indicate clearly that there are HLA class II alleles involved in the susceptibility to and protection from HIV-1 infection in our study group and further they vary in different ethnic groups reported in literature...

..Therefore this study suggests that smoking-induced platelet activation may be an important contributory mechanism for acute coronary events in smokers...

..In north India similar group of defect in a large number of patients have been reported as isolated PF3 abnormality or thrombasthenic thrombopathy...

..Further, when compared to HLA associations of other world populations the present study indicates the relative importance of different HLA alleles that may vary in different populations...

..7)) and the presence of the XmnI polymorphism were associated with lesser severity of the disease in Indians...

..66%) and 992A>G (16.66%). This is the first study to correlate the clinical profile with the molecular defects causing PK deficiency from India where 10 novel mutations that produce non-spherocytic haemolytic anaemia were identified...

..Thus, satisfactory eye surgery in patients with haemophilia is possible with a restricted amount of factor concentrates with gratifying results...

..As monoclonal anti-D typing reagents may not detect all RhD antigen epitopes, we studied the RhD antigen epitope heterogeneity in different population groups in India...

..In addition, B*2714 was observed in a patient with ankylosing spondylitis. This association has not been previously reported in ethnic groups from India...

..Over the last 6 years we performed carrier detection and antenatal diagnosis in families with patients of haemophilia A and B...

..CONCLUSION: All three polymorphic markers yielded information. This suggests that these three markers can be effectively used in the antenatal diagnosis of haemophilia A in Indian families...

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..Prenatal diagnosis and carrier detection in India therefore must be discussed in this context...

..The development of NAITP also depends on the HLA type of the mother; nevertheless, the number of pregnancies in which the fetus is at risk for NAITP in India is quite significant...

..The inhibitory activity of EACA on factor VIII inhibitor was equally seen with recombinant factor VIII also; hence this action cannot be explained by its antifibrinolytic activity...

..Higher thrombin-generating potential in case of patients positive for beta2GP1 did not seem to have any impact on the clinical severity of haemophilia patients...

..Prenatal diagnosis allowed the parents with a severely affected child with PK deficiency to have the reproductive choice of having the fetus tested in a subsequent pregnancy...

..All 1st degree female relatives of severe and moderate hemophilia must get factor assays done because some of them may be vulnerable to post-procedural or post-traumatic bleeding...

..Various studies worldwide suggest that human leukocyte antigen (HLA) region may be involved in the genetic susceptibility of vitiligo but little information is available from India...

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..This study was carried out to examine the placenta from women with abnormal pregnancies and a history of unexplained foetal loss, and to associate with maternal thrombophilia status...

..The patient did not respond to therapy and follow-up of cytogenetics revealed same chromosome abnormality. Hence, this three way translocation involving X chromosome might be associated with poor prognosis...

..This study has established a DNA technique to diagnose cases of NAITP definitively and to treat these cases during the neonatal period, and also gives the frequency distribution of HPA in some of the Indian population...

..05). Thus, folic acid had a dual effect in that it reduced hyperhomocysteinemia and sE-selectin which showed a significant reduction on folate supplementation for 15 days...

..Thus, the combined deficiency observed was due to a chance association of two distinct genetic defects...

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..This is the first case of trisomy 1q with an extra marker chromosome which also contained chromosome 13pter-q12.12 material...

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..It also alerts us to the fact, whether in cases of repeated malarial infections in susceptible individuals, vasculitic disorders, which through ANCA pathways develop, could lead to renal and other complications...

..Hb Q is rare and not a single homozygous case has been reported. However, Hb Q disease showed wide variation in clinical and haematological presentation in the same family...

..We also found a significant association between haemophilia patients with chronic synovitis from India and a hitherto unidentified allele, B*2708...

..falciparum infection. Data might have been overwhelmed by the noise of additional selection pressure exerted by other infectious agents prevalent in endemic areas of P. falciparum malaria...

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..Hemophilia B (HB) is an X-linked recessively inherited bleeding disorder caused by heterogeneous mutations in the factor IX gene...

..On the basis of clinical and cytogenetic evaluation, these two cases were confirmed as NBS. However, detailed molecular studies are essential for accurate diagnosis and management of this disease...

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..A scenario can be envisaged where polymorphisms associated with transplant outcome are tested prior to transplantation at the same time as HLA typing...

..The mean serum ferritin level (microg/L) was significantly low in Cases (31.9 +/- 31.0) as compared to Controls (53.9 +/- 56.5) with P = 0.003. Iron deficiency could be a potential risk factor for febrile seizure in children...

..This is a very rare presentation of moderate haemophilia with serious consequences and has not to our knowledge, previously been reported in the English literature...

..Our results will have clinical implications in related and unrelated HLA-matched bone marrow transplantation in India...

..thus indicating that this polymorphism can serve as an important marker in the carrier detection and prenatal diagnosis of haemophilia A families...

..We studied the association of acquired and inherited markers of thrombophilia in a large group of patients with unexplained pregnancy loss...

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..Prevalence of HLA A*3303 at very high frequencies among Western Indians may be a consequence of the founder effect, racial admixture, or selection pressure due to environmental factors among this population...

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..The first national meeting on "Guidelines for Immunophenotyping of Hematolymphoid Neoplasms by Flow Cytometry" was held on 14 March 2008 in Mumbai, India...

..The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences...

..Fc gamma alleles may be associated with inefficient removal of apoptotic cells or antigens and hence may be associated with higher risk of SLE...

..01) to the degree of blocking of antiidiotypic antibodies. The results of this study suggest that antiidiotypic antibodies against antiplatelet antibodies are a potential prognostic marker in chronic ITP...

..11% vs. 31.86%; P < 0.001) was observed when compared to the controls. These results suggest that HLA-B7 antigen may be associated with B27-negative SSA in patients from western India...

..Since the spectrum of clinical expression is similar to that is seen in 18p(-) syndrome it is suggested that not only whole of 18p but part of chromosome no. 18 proximal to 18 q 11.2 may also be involved in this phenotype...

..The present study was therefore undertaken to study the aetiology and frequency of chromosomal changes in MDS patients, attending a tertiary care hospital in Maharashtra, India...

..We suggest that accurate fetal blood sampling is a safe technique for the diagnosis of many of the bleeding disorders in places where genetic diagnostic services are not available...

..This nested PCR approach enabled amplification of small quantities of DNA from fetal erythroblasts, providing a cost-effective method for noninvasive diagnosis...

..This information is important for establishing prenatal diagnosis programmes in different states in India as well as other countries in which there is a major influx of Indian immigrants...

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..We report an interesting consanguineous family from Western India with a combination of these two disorders, which was referred to us for prenatal diagnosis...

..Thrombophilia thus modulates the clinical severity of hemophilia as is observed in patients who carry similar mutations...

..The spectrum of mutations in haemophilia B patients reported from other parts of India has been compiled and a comprehensive analysis has been presented...

..Only one case of misdiagnosis was detected so far (0.22%), where the diagnosis was based only on the extragenic marker of the factor VIII gene...