Meera Sikka

Phenotypic expression of hemoglobin A2 in beta-thalassemia trait with iron deficiency

Abstract Iron status was estimated in 463 heterozygous beta-thalassemics to delineate the effect of iron deficiency on the expression of hemoglobin A2 (HbA2) in these patients. One hundred and twenty-six (27.2%) patients with the trait were iron deficient. These iron-deficient patients had a significantly (p<0.0002) higher prevalence of anemia (90.5%) compared with iron-replete patients with the trait (71.5%). The mean hemoglobin (Hb) concentration, MCV, and MCH were significantly (p<0.0001) lower in patients with beta-thalassemia traits (BTT) who had iron deficiency than in those without iron deficiency. Mean RBC count and MCHC did not differ in the two groups. Mean HbA2 was not significantly different in the two groups of patients with the trait and was elevated ( 1 3.5%) in all but one heterozygote investigated. Mean HbA2/cell was significantly (p<0.05) lower in BTT patients with iron deficiency than in patients without iron deficiency. The presence of iron deficiency did not preclude the detection of BTT in this population. The effect of iron deficiency in BTT was apparent as a significant lowering of the Hb concentration and an increased prevalence of anemia. Iron therapy is warranted for BTT patients with iron-deficiency traits and would help to significantly raise their Hb concentration. The elevation ofHbA2 was striking and could be used with reliability in making the diagnosis of BTT even in the presence of iron deficiency.

Serum Ferritin Levels in Carriers of β-Thalassaemia Trait

Hypochromic and microcytic red cell morphology is the most commonly encountered abnormality in a clinical laboratory. Most of such cases have iron deficiency anaemia. However, in Pakistan about 5% of

Congenital deficiency of factor VII

A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

Lead-induced DNA damage and cell apoptosis in human renal proximal tubular epithelial cell: Attenuation via N-acetyl cysteine and tannic acid

This study investigates the exposure of lead‐induced reactive oxygen species (ROS) generation, DNA damage, and apoptosis and also evaluates the therapeutic intervention using antioxidants in human renal proximal tubular cells (HK‐2 cells). Following treatment of HK‐2 cells with an increasing concentration of lead nitrate (0–50 μM) for 24 h, the intracellular ROS level increased whereas the GSH level decreased significantly in a dose‐dependent manner. Comet assay results revealed that lead nitrate showed the ability to increase the levels of DNA strand breaks in HK‐2 cells. Lead exposure also induced apoptosis through caspase‐3 activation at 30 μg/mL. Pretreatment with N‐acetylcysteine (NAC) and tannic acid showed a significant ameliorating effect on lead‐induced ROS, DNA damage, and apoptosis. In conclusion, lead induces ROS, which may exacerbate the DNA damage and apoptosis via caspase‐3 activation. Additionally, supplementation of antioxidants such as NAC and tannic acid may be used as salvage therapy for lead‐induced DNA damage and apoptosis in an exposed person.

Concurrent chronic myelogenous leukemia and tuberculous lymphadenitis: a case report.

BACKGROUND Double pathology is uncommon. The diagnostic effort must be directed toward uncovering a disorder that can explain all the findings in a given patient. However, exceptions occur, notably in the sphere of infectious disorders. This is particularly true in the context of multiple infections in immunocompromised patients. CASE Fine needle aspiration was performed on 2 lymph nodes in a 22-year-old male. Extramedullary hematopoiesis was seen in 1, while the other showed acellular necrosis with acid-fast bacilli. The hematologic workup revealed chronic myelogenous leukemia. CONCLUSION Extramedullary hematopoiesis can be a cytologic clue to hematologic disorders. A search for an additional infectious disease may be in order.

Erythrophagocytosis in Bone Marrow: A Clue to Pyrexia of Unknown Origin

ABSTRACT Bone marrow (BM) is usually done to investigate the patients for Pyrexia of Unknown Origin (PUO). However, only 16.5 % of cases reveal any diagnostic information. Increasing incidence of atypical presentations are seen in typhoid. Careful examination of BM to pick up clues for diagnosis is important We report a case of a 15 year old female who presented with fever since associated with altered sensorium, gum bleeding and loose stools. Hematological findings revealed pancytopenia with macrocytic anemia with erythrophagocytosis in BM aspirates. A diagnosis of typhoid was made with a positive typhi dot IgM. The authors present this case to highlight the importance of simple BM findings of erythrophagocytosis and how awareness about this feature can point towards the right diagnosis in the midst of atypical clinical and hematological features. J Microbiol Infect Dis 2018; 8(2):73-75.

Utility of simultaneous assessment of bone marrow aspirates and trephine biopsy sections in various haematological disorders

Background: Bone marrow examination is crucial diagnostic modality for evaluation of various hematological and nonhematological disorders. However, marrow aspirate smears and biopsy sections, even though performed simultaneously, are often assessed at different points of time due to different processing methods. This sometimes results in discordance in diagnosis which adds to the diagnostic dilemma and delays the treatment. aim: This study aims to compare the diagnostic accuracy and the rate of concordance between the two modalities of bone marrow examination. Materials and Methods: Three hundred simultaneously performed bone marrow aspirates and BM trephine biopsies were retrospectively analyzed over a period of 1 year. The presence or absence of concordance was recorded. The reasons for inconclusive reports were also recorded. The concordance rates for different hematological disorders were calculated and recorded as high for >80%, moderate for 50%–80%, and low for <50%. The findings of discordant cases and reasons for discordance were also tabulated. Results: A high concordance was found in cases of megaloblastic anemia, leukemias, non-Hodgkins lymphoma, and multiple myeloma; moderate concordance was found in hypoplastic marrow and concordance was low in Hodgkins lymphoma, chronic myeloid leukemia (CML) in blast phase, metastatic, and granulomatous involvement of bone marrow. Conclusion: Bone marrow aspiration alone is sufficient for the diagnosis of megaloblastic anemia and most of the hematological malignancies. Bone marrow biopsy is more appropriate for detection of disorders with focal marrow involvement such as lymphoproliferative disorders, metastatic cancer, focal blast crisis in CML, granulomatous lesions, and hypoplastic marrow. However, it is strongly recommended that both should be reviewed simultaneously to ensure maximum diagnostic accuracy.

Hemostatic Abnormalities in Multiple Myeloma Patients

Background: Multiple myeloma (MM) is a neoplastic plasma cell disorder characterized by clonal proliferation of plasma cells in the bone marrow. Diverse hemostatic abnormalities have been reported in patients with myeloma which predispose to bleeding and also thrombosis. Methods: Complete blood count, biochemical parameters and parameters of hemostasis i.e. platelet count, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), factor VIII assay results, plasma fibrinogen, D-dimer and lupus anticoagulant, were assessed in 29 MM patients and 30 age matched controls. Results: The most frequent abnormal screening parameter was APTT. Of the six indicative of a bleeding tendency i.e. thrombocytopenia, prolonged PT, APTT, TT, reduced plasma fibrinogen and factor VIII, at least one was abnormal in 8 (27.6%) patients. Of the four prothrombotic markers, lupus anticoagulant, D-dimer, elevated factor VIII and plasma fibrinogen, one or more marker was present in 24 (82.7%). D-dimer was the most common prothrombotic marker, being elevated in 22 (75.9%) patients. One or more laboratory parameter of hemostasis was abnormal in all 29 (100%) patients. Though thrombotic complications are reported to be less frequent as compared to hemorrhagic manifestations, one or more marker of thrombosis was present in 24 (82.7%) patients. Conclusion: This study provided laboratory evidence of hemostatic dysfunction which may be associated with thrombotic or bleeding complications at diagnosis in all MM patients. Hence, screening for these abnormalities at the time of diagnosis should help improved prognosis in such cases.

Comparison of the applicability of Hasford score and European Treatment and Outcome Study score in Indian patients with chronic phase chronic myeloid leukemia on imatinib therapy

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Hypercalcemia, multiple osteolytic lesions, and acute renal failure: a rare presentation of B-cell acute lymphoblastic leukemia

Urea 171 mg/dL 15–40 mg/dL Creatinine 3.6 mg/dL 0.9–1.8 mg/dL Sodium 141 mEq/L 133–145 mEq/L Potassium 4.3 mEq/L 3.8–5.0 mEq/L Chloride 107 mEq/L 96–106 mEq/L Calcium 13 mg/dL 8.5–11 mg/dL Phosphate 2.3 mg/dL 2.4–4.1 mg/dL Uric acid 7.6 mg/dL 1.9–7.5 mg/dL Total bilirubin 0.4 mg/dL 0–2 mg/dL Direct bilirubin 0.2 mg/dL 0.2–1.0 mg/dL AST 6 U/L 10–40 U/L ALT 26 U/L 7–56 U/L Total protein 6.8 gm/dL 0.3–8.0 gm/dL Albumin 2.7 gm/dL 3.5–5.5 gm/dL A/G ratio 0.65 0.8–2.0