Context : Various hemoglobinopathies are one of the major public health problems of India. Aims: High performance liquid chromatography (HPLC) is a speedy and accurate tool for diagnosis of various hemoglobinopathies. In present study about 7,000 cases have been studied for identification of various hemoglobin (Hb) disorders in western India. Settings and Design : Study is conducted from May 2010 till April 2013 for various hemoglobinopathies and variants. The geographical distribution of all cases included states of western India. Materials and Methods: Complete blood count (CBC) is done on CELL DYN 3700 analyzer and then HPLC is performed on BIO-RAD 'VARIANT II' (beta thalassemia short program) in samples received in our laboratory. Simple Statistical analysis is done with help of Microsoft Office Excel 2007. Results: A total of 7,261 cases were included in our study, out of these 1,615 (22.24%) cases showed abnormal Hb fractions. The major abnormality observed was of high HbA2, a cutoff value of > 3.9% was considered for diagnosis of beta thalassemia trait (BTT). A total of 839 cases (11.55%) of BTT were diagnosed. Other hemoglobinopathies were also identified in varying proportions. Conclusions: HPLC is simple, accurate, and superior technique combined with complete automation makes it an ideal method for diagnosis of hemoglobinopathies.

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Background: Septicemia is one of the major causes of neonatal morbidity and mortality. Objective- The objective of our study was to determine the role of hematologic scoring system (HSS) in early diagnosis of neonatal septicemia and provide an effective guideline in decision making regarding judicious use of antibiotics. Materials and Methods: The study was done taking 60 neonates admitted in the hospital. The hematological parameters were studied in all of them. Blood cultures were performed as gold standard for diagnosing septicemia. Results: Analysis of the hematologic profiles in the light of the HSS found that an abnormal immature to total neutrophil (I:T) ratio followed by an abnormal immature to mature neutrophil (I:M) ratio were the most sensitive indicators in identifying infants with sepsis. The study also found that the higher the score the greater the certainty of sepsis being present. The score ≥ 4 was more reliable as a screening tool than any individual hematological parameter. Conclusion : HSS is rapid, easy to perform, cost-effective screening tool for early diagnosis of neonatal sepsis and thereby helps in making of decisions regarding judicious use of antibiotics.

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Background: Hemophagocytic lymphohistiocytosis (HLH) is a hyper-inflammatory syndrome characterized by fever, hepatosplenomegaly, bone marrow, skin, and central nervous system infiltration. Incidence of HLH is 1 per 50,000 live births worldwide. However, a delay in diagnosis and treatment would inevitably lead to a rapidly progressive and fatal course. In this case series, we present 10 cases of HLH in children; their presentation, course, and outcome. Patients and Methods: We retrospectively looked at 10 cases of HLH who presented to our center at Pediatric Hematology/Oncology in UAE at Tawam Hospital between 2006 and 2012. Data was collected from computerized electronic medical records using the Cerner System at Tawam Hospital, in addition to referring to hard copies of patients' records. The median age at diagnosis was 1 year (age range 2 months-5 years). Diagnosis was based on fulfilling clinical and laboratory criteria. Results: All patients initially presented with unremitting prolonged fever, splenomegaly and a bi- or trilineage cytopenia. Blood investigations showed elevated ferritin (n = 10), elevated liver enzymes (90%) and high lactate dehydrogenase (LDH) (80%), hypertriglyceridemia and hypofibrinogenemia in 80% (n = 8) . Central nervous system (CNS) involvement was reported in a total of five patients; three had convulsions, partial seizures, hemiplegia, and meningeal signs; while the other two patients showed high cerebrospinal fluid protein level. All patients were started on HLH 2004 therapeutic protocol. Only seven completed their treatment course, two patients died prematurely before starting induction therapy and third patient died from pulmonary hemorrhage during induction week #1. At a first reactivation episode, fourth patient succumbed to a gastrointestinal (GI) hemorrhage and died. Results of genetic mutation analysis were positive for three patients (STXBP2, STX-11, and PRF1 gene mutations), negative for six patients, and not completed for one patient. Epstein-Barr virus (EBV) serology was positive in eight (80%). Other associated infections were rhinomaxillary mucormycosis, Candida albicans septicemia in two patients, skin methicillin-resistant Staphylococcus aureus (MRSA), positive cytomegalovirus (CMV) serology, and influenza A infection. Only three patients received bone marrow transplantation and currently are stable on regular follow-up and are disease-free. Overall initial success rate was 70%, survival probability at 1- and 4-years was 60%. Only two patients had relapse (reactivation), one after a few months and the other after almost 3 years. Conclusions: HLH is a rare but rapidly fatal disease and may present in a wide range of different presentations. A persistent and prolonged fever with associated progressive abdominal distention (hepatosplenomegaly) and cytopenias over an acute phase should raise the suspicion of HLH. Accordingly, early diagnosis and prompt aggressive treatment are vital for patients' survival and favorable outcome.

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Background: Tumor lysis syndrome (TLS) comprises a number of metabolic and renal abnormalities of variable spectrum. It is associated with lymphoproliferative disorder e.g., acute lymphoblastic leukemia (ALL), non-Hodgkin lymphoma (NHL). The aim of this study to evaluate the incidence, severity and outcome in Saudi children with ALL. Methods: Medical records of Children age <14 years and diagnosed with ALL were reviewed. We adopted the Hande and Garrow definitions for tumor lysis Syndrome. All patients received hydration, alkalinization with sodium bicarbonate and allopurinol as prophylaxis. Results: Seventy-four patients developed TLS (19% of all patients). Boys were affected than girls with ratio of 2.4:1. LTLS occurred in 93.3% and CTLS in 6.7%. Hyperphosphatemia was found in 94.6% of the patients. Hyperkalemia occurred only in 17 patients (23%). Hypokalemia was found in significant number of patients (12%). Lymphomatous presentation was seen in 60 patients (82%). Hemodialysis was required in 5 patients (6.6%) and 4 of them had hyperleukocytosis. There were no deaths encounterd due to TLS. Male sex, lymphomatous presentation, high LDH, high pretreatment WBC and central nervous system involvement were found to have statistical significance as risk factors for TLS development. Conclusion: TLS is a common event in childhood ALL. Spontaneous TLS indicate highly proliferating tumor and possible delayed presentation to our institute. Prophylactic measures are important to improve the outcome particularly when initiated as soon as the diagnosis is established.

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The clinicopathologic entity of bone marrow necrosis (BMN) was first reported by Wade and Stevenson in 1941. BMN is defined as necrosis of the myeloid tissues and stroma without cortical bone involvement. The pathophysiology of BMN remains unclear; however, the occlusion of microcirculation, accompanied by hypoxemia, causes damage to the cells and plays an important role. Severe BMN is rarely diagnosed in living patients. Herein, we report a rare case of severe BMN in a patient with sickle cell disease (SCD) who presented with an unusually severe vaso-occlusive crisis complicated by acute chest syndrome (ACS), pancytopenia, and disseminated intravascular coagulation. Although the clinical features are highly suggestive of BMN, the diagnosis still required a bone marrow (BM) examination because early transfusion therapy can be lifesaving. The prognosis of severe BMN seems to reflect the poor outcomes of such underlying conditions; however, the prognosis of generalized BMN is not so poor when associated with SCD.

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Background: Endometriosis is implantation of normal endometrial mucosa in the ectopic sites. Literature review suggests that microscopic internal bleeding follows by revascularization and fibrosis is possible mechanism for endometriosis. There are a few reports regarding association of endometriosis and bleeding disorders. We present two cases with bleeding tendency, one with mild hemophilia A and another with Von Willebrand Disease (VWD) that were presented with heavy menses and endometriosis.

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Myelofibrosis (MF) is a hematologic malignancy characterized by proliferation of an aberrant myeloid-derived stem cell clone, leading to inefficient hematopoiesis and bone marrow fibrosis. Typical clinical manifestations include progressive anemia and splenomegaly, which leads to several debilitating symptoms, including fatigue, night sweats, itching, appetite loss, and bone pain. Janus kinase (JAK)-signal transducer and activator of transcription (STAT) pathway dysregulation is a common feature of MF. Ruxolitinib, an oral JAK1/JAK2 inhibitor, was recently approved by the US Food and Drug Administration and European Medicines Agency for the treatment of MF patients. In clinical trials, patients treated with ruxolitinib had significant reductions in spleen size and improvements in their constitutional symptoms and quality of life (QoL), with possibly prolonged survival. The most common adverse events were anemia and thrombocytopenia. Here, we review the most recent clinical data on ruxolitinib and discuss its use in MF patients.

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