Severe aplastic anemia (SAA) is a serious bone marrow disease that needs a comprehensive and service-intense treatment with either bone marrow transplantation (BMT) or immunosuppressive therapy (IST); both are difficult to optimally offer in resources-limited countries. Here, we report the outcome of IST using horse Antithymocyte globulin (ATG) in 18 (7 children; 11 adults) patients with SAA referred to our center in west India. Only 18 patients out of 102 diagnosed as AA in 2 years could receive IST, largely due to costs restraints. Although CR was seen in 30% in adults and 33% in pediatric cases, but overall 50% cases were able to enjoy transfusion-independence, requiring no further treatment. Treatment related mortality occurred in 6.2%, relapse in 6.2% and 6.2% had clonal evolution. This makes IST a valuable option for managing SAA in absence of bone marrow transplantation.

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Polycythemia vera (PV) is a chronic myeloproliferative disorder in which there is an alteration in the pluripotent progenitor cell leading to excessive clonal proliferation of erythroid, myeloid and megakaryocytic progenitor cells. The natural history of PV can be divided into several stages, beginning with asymptomatic, isolated erythrocytosis, progressing to more generalized myeloid proliferation, splenomegaly, and thrombosis, followed by myelofibrosis, leukoerythroblastosis, cytopenia, and myeloid metaplasia and sometimes, acute leukemia. Isolated erythrocytosis, leukocytosis, or thrombocytosis or in combination are usually present at the onset of disease. We present the case of a 65-year-old man, who developed thrombocytopenia and hemorrhagic pleural effusion as an initial presentation of PV that is extremely rare.

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Objectives: To determine the burden, the clinical and laboratory pattern of presentation of multiple myeloma (MM) in Ibadan, South-Western Nigeria. Materials and Methods: A retrospective study of cases of MM from December 2007 to November 2012. Results: Records of 21 cases of MM were retrievable. The median age was 60 years, with age range of 40-95 years. The M:F ratio was 1.1:1. IgG MM was the most common, found in 14 (70%). Most cases were referred from other clinical departments of the University College of Hospital with Orthopaedics department referring the highest number (33.3%). The most common complaint included low back and waist pain in 20 (96%) of which 9 (44%) had difficulty in walking but 4 (19%) actually had demonstrable paraparesis. Two cases (9.6%) presented in unconscious state while a case (4.3%) respectively presented with malignant pleural effusion, sacral plasmacytoma and cauda-equina syndrome. The mean hematocrit, white cell count and platelet count were 26.5%, 6, 216/mm ³ and 264, 778/mm ³ respectively. Biochemical abnormalities included hyperuricemia (>6 mg/dl) in 4/15 (26.6%). Uremia (urea 50-200 mg/dl) was found in 4/21 (19%), hypocalcemia (Ca ⁺⁺ <9 mg/dl) in 6 (35.3%). Paraproteinurial in 9 (42.9%). Elevated erythrocyte sedimentation rate (>100 mm/H) values were recorded in 19 (90.5%). Main Radiological features were osteolytic lesions and osteoporosis in 18 (85.7%). Serum protein electrophoretic pattern showed abnormally thick gamma band in 47.1%, thick beta band in 19.1%, marked polyclonal gammopathy in 1 (4.8%) and 4 (18.4%) had nonsecretory MM. Bone marrow studies showed presence of abnormal plasmacytosis in all ranging from 20% to 80% infiltration. Therapy was mainly by combination of melphalan, prednisolone and thalidomide (M + P + T). Those who had thalidomide appear to have better survival. Conclusion: MM is a heterogeneous disease with diverse clinical and laboratory features. An average of 4 cases presented per year; bony presentations predominate, IgG MM was the commonest and hypercalcemia was not documented.

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Protein and immunofixation electrophoresis are the laboratory backbone assays for testing multiple myeloma (MM) and related plasma cell proliferative diseases. The secreted monoclonal proteins act as serological tumor markers, and the electrophoretic assays identify monoclonal proteins for diagnosis as well as quantitate these markers for monitoring clinical course and response to therapy. However these techniques present limitations, especially in patients with nonsecretory MM, light chain MM, and amyloid light chain amyloidosis. Freelite, a nephelometric/turbidimetric serum assay for the measurement of serum free light chains, has improved the management of patients with monoclonal gammopathies and has been included in international myeloma working group guidelines for the screening, prognostic, monitoring and as response criteria. Recently, a new assay, Hevylite^; , was also approved by Food and Drug Administration for the monitoring of IgA and IgG MM. It allows the quantification of each immunoglobulin subtype (i.e., IgGκ, IgGλ, IgAκ, IgAλ), enables analysis of specific involved/monoclonal and uninvolved/polyclonal immunoglobulins heavy/light chain pairs, which produce immunoglobulin heavy/light chain ratios and may improve sensitivity for identifying residual disease and relapse in some patients. Together, these assays are important tools which will help us to achieve the correct diagnostic and follow-up of B cell dyscrasias.

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Background / Objective: The presence of persistent high fetal hemoglobin (HbF) in sickle cells disease (SCD) patients may be a modulator of clinical and biochemical features. This study seeks to test the hypothesis that high level of HbF may regulate the levels of calcium, magnesium, zinc, and copper in SCD patients in a steady clinical state. Materials and Methods: Serum calcium, magnesium, zinc, and copper were assayed in 100 SCD patients in steady clinical state and 50 control subjects using the colorimetric method while blood HbF was determined by alkaline denaturation method. Results: Twenty-five percent of the study group had high (>5%) HbF, while 75% had low (<4.9%) HbF levels. HbF (P < 0.001), serum copper (P < 0.001), and calcium (P = 0.002) were significantly higher in SCD patients compared with controls, while zinc and magnesium were significantly lower (P < 0.001) in SCD patient compared with controls. Serum calcium (P = 0.01) and copper (P = 0.118) were lower in SCD patients with high (≥5%) HbF while magnesium and zinc were significantly higher (P < 0.001) in SCD patients with high HbF compare with those with low (≤4.9). HbF correlated negatively with calcium (r = −0.25, P = 0.011) and copper (r = -0.11, P = 0.287) while magnesium (r = 0.60, P = 0.001) and zinc (r = 0.57, P < 0.001) correlated positively on HbF levels. Conclusion: HbF levels may have modulated the levels of these elements in SCD patients. It is suggested that HbF may be estimated along with hemoglobin electrophoresis in diagnosis, clinical management, and predicting clinical course of SCD patients. Nutritional studies may be routinely conducted in this group of patients for better management.

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Background: Thalassemia is an inherited disorder of the blood. It is best treated with regular blood transfusion and chelation in developing countries which carries the risk of acquisition of blood-borne viral infection. Though hepatitis B infection can be effectively prevented by vaccine, yet no such vaccine is available for human immunodeficiency virus (HIV). The only strategy to prevent HIV infection is effective screening of blood products. There is a lack of sufficient reported data on transfusion transmitted infections in β-thalassemia major from India. Moreover, data on risk factors associated with HIV transmission in thalassemia children are scanty. Subjects and Methods: This retrospective study was conducted at pediatric thalassemia ward of KT Children Hospital, Rajkot. Case records of patients were retrieved from July 2011 to August 2012. Information regarding age, sex, the number of transfusions, place of transfusion, immunization against hepatitis B, the status of HIV, and hepatitis B surface antigen (HBsAg) were recorded in standard performa. HIV and HBsAg were tested by using patient sera with enzyme-linked immunosorbent assay. Results: Study subject consisted of 237 children. There were 160 males and 77 females. Of 237 children 8 (3.37%) children were found to be HIV positive and 3 (1.26%) children found to be HBsAg positive. Univariate analysis showed that incomplete immunization for hepatitis B was significantly associated with increased risk of HIV (P = 0.00). Conclusion: The prevalence of HIV and hepatitis B is significant in our study. Routine hepatitis B immunization and HIV screening by more stringent method are required.

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Background: Sickle cell disease (SS), is one of the most common inherited hematologic disorders, presents with chronic hemolytic anemia that can be punctuated by crises, infarcts, organ damage and hypercoagulable state. Sickle cell trait (AS) is a benign disorder. However, there is an increased risk for several abnormalities such as hematuria and pulmonary embolism. Coagulation and inflammation cannot be considered as two separate processes. Protein C is an important link between coagulation and inflammation; activated protein C can modulate inflammatory activity. Objectives: To examine the extent to which the coagulation activation and inflammatory link processes occur in hemoglobin SS disease (HbSS) patients in chronic state and in sickle cell trait (AS) individuals comparable with normal individuals. Subjects and Methods: Twenty sickle cell anemia patients in the chronic state and 20 AS individuals were included in this study. Coagulation tests and some acute phase reactants (inflammatory markers) were measured in all cases. Results: Comparison of SCD patients and AS individuals altogether, showed significantly higher prothrombin time, C-reactive protein and WVF activity (P < 0.05, P < 0.01 and P < 0.05, respectively) and significantly lower protein C level and protein S activity (P < 0.01 and P < 0.05, respectively) in HbSS patients than AS. Other parameters showed no significant difference. Conclusion: Some hemostatic and inflammatory link changes are present in SCD even in the chronic state and in AS individuals. Together with the known sickling of red blood cells, thrombocytosis, and increased viscosity, they contribute to the hypercoagulable state present in these individuals.

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Chronic eosinophilic leukemia (CEL) is a rare cause of eosinophilia. CEL is known to be associated with BCR-ABL fusion gene or rearrangement of platelet-derived growth factor receptor alpha (PDGFRA), (Platelet-derived growth factor receptor betaPDGFRB or fibroblast growth factor receptor-1. CEL, no specific type excludes patients with the above mutations and necessitates the presence of clonal cytogenetic abnormality or blast cells more than 2% in peripheral blood and more than 5% in bone marrow. Imatinib mesylate inhibits Fip 1-like 1 (FIP1L1)-PDGFRA-induced colony formation, enabling cells to undergo normal differentiation. Our patient was diagnosed as a case of CEL on clinical grounds along with bone marrow morphology, and imatinib therapy was initiated empirically. Results of FIP1L1-PDGFRA gene rearrangements available subsequently were in concordance with patient profile and response to imatinib therapy.

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Despite a long tradition of reporting diagnostic accuracy in terms of sensitivity and specificity, only a minority of physicians correctly interprets and applies this information. Likelihood ratios (LRs) are more intelligible and more meaningful because it connects the preprobability of a person to postprobability that guide the physician to make the right decision about further procedures. Using Fagan Nomogram, makes the application of the LRs more customized to each case. In case of testing a continuous diagnostic test, receiver operating curve is used to set a cut-off value that will be the line between disease and nondisease persons. When determining the cut-off, the trade-offs between increasing the sensitivity with lowering specificity and vise-versa depends on the nature of the disease, as well as whether this test will be used as screening or as diagnostic.

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The myelodysplastic syndromes (MDS) are heterogeneous diseases with the different time period of progression to acute myeloid leukemia (AML). We report a case of a 38-year-old male with intermediate risk MDS, presence of normal karyotype and no expression of FLT3-internal tandem duplications (ITD), ecotropic virus integration site-1 (EVI-1) and Wilms' tumor 1 (WT1). Four months later, overt AML was diagnosed. The presence of normal karyotype was once again observed, but the molecular analysis revealed FLT3-ITD presence and over-expression of WT1 and EVI-1 genes. Complete remission was achieved after high-dose induction chemotherapy, and high-dose cytarabine consolidation was carried out. Three months later a relapse with a fatal outcome occurred. The case is the first report of a quick MDS progression to AML within 4 months due to rapid acquisition of several molecular abnormalities. This case suggests that frequent molecular screening for relevant genetic abnormalities might be useful for early detection of disease progression, particularly in normal karyotype cases.

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