Screening for hemoglobinopathies in a socially disadvantaged population from a rural district of West Bengal, India

Background: Detection of traits/carriers plays an important role in preventing the birth of a thalassemic child. West Bengal, one of the eastern states in India is the home to a bulk of socially challenged population including scheduled castes and scheduled tribes among others. The present study aimed to detect the prevalence of different hemoglobinopathies in a socially challenged district of West Bengal.Methods: In this retrospective cross sectional study thalassemia detection camps were organized at the community level over a period of four years. Venous blood samples were subjected to complete hemogram and high performance liquid chromatography (HPLC). In few difficult cases samples were sent to the reference laboratory for molecular characterization. The prevalence of heterozygous, homozygous or compound heterozygous states of different thalassemias and hemoglobinopathies across various respondent groups (e.g. children, premarital, postmarital and antenatal) and existing caste categories (scheduled tribes, scheduled caste and general) were analyzed.Results: We analyzed a total of 114,606 HPLC reports; 18681 (16.30%), 15438 (13.47%) and 80487 (70.23%) cases belonged to scheduled tribes, scheduled castes and general category respectively. Out of 114,606 cases, 11,001 (9.6%) had revealed abnormal hemoglobins; beta thalassaemia trait was the most common (6.63%; n=7602) across all subgroup analysis. Among others, HbE trait, sickle cell trait and HbD trait were detected in 1788 (1.56%), 1362 (1.18%) and 126 (0.11%) cases respectively.Conclusions: Beta thalassaemia trait and HbE trait are the common haemoglobin variants in this rural district of West Bengal. The prevalence of sickle gene revealed in the present study is much less than previous studies in the locality

The Key Genetic Determinants Behind the Phenotypic Heterogeneity of HbE/β-thalassemia Patients and the Probable Management Strategy

HbE/β-thalassemia is the most common severe form of thalassemia which is very prominent in South East Asian countries. It is responsible for nearly one-half of all the severe types of β-thalassemia all over the world. It is also known to represent a wide range of phenotypic diversity which varies from asymptomatic to transfusion-dependent severe phenotype. The most important predictive factor is mutations within the beta-globin gene (HBB). Apart from the primary genetic modifiers, there are certain other determinants regulating the phenotypic heterogeneity including, co-inheritance of alpha thalassemia mutations and other secondary modifiers including Xmn1 polymorphism, HBS1L-MYB, GATA-1, BCL11A polymorphism, and presence of HPFH mutations. Although the degree of severity is also determined by other tertiary genetic modifiers like increase in serum erythropoietin due to anemia, previous infection with malaria, environmental factors, splenectomy, etc. This review aimed to reveal the potential genetic predictors of HbE/β-thalassemia patients and the probable management strategy. This also enhances the generation of “personalized medicine” for better patient care. The instability of clinical phenotype and remarkable variation indicate careful monitoring of treatment for each patient and the therapeutic approaches should be monitored over time

OUTBREAK OF BURKHOLDERIA CEPACIA INFECTION: A SYSTEMATIC STUDY IN A HEMATOLOGY-ONCOLOGY UNIT OF A TERTIARY CARE HOSPITAL FROM EASTERN INDIA.

Background: Burkholderia cepacia, an aerobic gram-negative bacillus, is a frequent colonizer of fluids used in the hospital ward. It poses little risk of infection to healthy people; however it is a known important opportunistic pathogen causing morbidity and mortality due to its intrinsic resistance to most of the antibiotics in hospitalized patients. Small hospital outbreaks are frequent. B. cepacia may occur as an opportunistic infection in hemato-oncology patients.  Here we present an outbreak of  Burkholderia cepacia infection in hematology ward of our institute. Methods: Febrile episodes as defined by IDSA guideline, 2010 were followed, and blood for culture and sensitivity was sent in all the events. The culture was done by an automated method using Bactalert 3d  Biomeriux  & sensitivity pattern by Microscan Siemens method and subsequently detected by  PCR based method. Results: During   September 2016 to February 2017 (six months), a total of 498 blood cultures were sent during febrile episodes. Out of which 60 (12%) came out to be positive for different microorganisms. Out of all positive cultures, Burkholderia cepacia was detected in 29 (48%)  patients, which reduced drastically following the change in antibiotic administration practice.  All isolates showed sensitivity to pipercillin+tazobactum, cefoperazone+sulbactum, fluoroquinolones, cotrimoxazole and carbapenems and resistance to polymyxin B and colistin. With timely intervention by appropriate intravenous antibiotics as per culture sensitivity result and change in antibiotic preparation practice, overall mortality was low 1 (4%) out of 29 culture positive episodes

Management of B-cell lineage acute lymphoblastic leukemia: expert opinion from an Indian panel via Delphi consensus method

IntroductionCurrently, there are no guidelines for the management of B-cell lineage acute lymphoblastic leukemia (B-ALL) from an Indian perspective. The diagnostic workup, monitoring, and treatment of B-ALL vary among different physicians and institutes.ObjectiveTo develop evidence-based practical consensus recommendations for the management of B-ALL in Indian settings.MethodsModified Delphi consensus methodology was considered to arrive at a consensus. An expert scientific committee of 15 experts from India constituted the panel. Clinically relevant questions belonging to three major domains were drafted for presentation and discussion: (i) diagnosis and risk assignment; (ii) frontline treatment; and (iii) choice of therapy (optimal vs. real-world practice) in relapsed/refractory (R/R) settings. The questionnaire was shared with the panel members through an online survey platform. The level of consensus was categorized into high (≥ 80%), moderate (60%–79%), and no consensus (< 60%). The process involved 2 rounds of discussion and 3 rounds of Delphi survey. The questions that received near or no consensus were discussed during virtual meetings (Delphi rounds 1 and 2). The final draft of the consensus was emailed to the panel for final review.ResultsExperts recommended morphologic assessment of peripheral blood or bone marrow, flow cytometric immunophenotyping, and conventional cytogenetic analysis in the initial diagnostic workup. Berlin–Frankfurt–Münster (BFM)–based protocol is the preferred frontline therapy in pediatric and adolescent and young adult patients with B-ALL. BFM/German Multicenter Study Group for Adult Acute Lymphoblastic Leukemia–based regimen is suggested in adult patients with B-ALL. Immunotherapy (blinatumomab or inotuzumab ozogamicin) followed by allogeneic hematopoietic cell transplantation (allo-HCT) is the optimal choice of therapy that would yield the best outcomes if offered in the first salvage in patients with R/R B-ALL. In patients with financial constraints or prior allo-HCT (real-world practice) at first relapse, standard-intensive chemotherapy followed by allo-HCT may be considered. For subsequent relapses, chimeric antigen receptor T-cell therapy or palliative care was suggested as the optimal choice of therapy.ConclusionThis expert consensus will offer guidance to oncologists/clinicians on the management of B-ALL in Indian settings

Intraosseous diffuse large B-cell lymphoma presenting as fracture of humerus

Non-Hodgkin′s lymphomas (NHL) is the most common primary bone lymphoid malignancy, and diffuse large B-cell lymphoma (DLBCL) accounts for the greatest percentage of cases. Here we report a 34-year-old male presented with pain and swelling of left shoulder joint of 2-month duration. There was no history of trauma. A diagnosis of intraosseous NHL-Diffuse large B-cell lymphoma (DLBCL) was made. He was treated with six cycles of with R-CHOP (Rituximab, Cyclophosphamide, Vincristine, Doxorubicin and Prednisolone) chemotherapy. Our report suggests that primary intraosseous high-grade NHL, e.g. DLBCL can present as fracture in an unusual site in a young adult