Factor V Leiden mutation and acquired activated protein C resistance in Indian women with recurrent fetal loss

Objectives: To study the prevalence and association of factor V Leiden (FVL) mutation and acquired APC resistance (APCR) in women with recurrent fetal loss (RFL).Patients and Methods: Fifty women with two or more RFLs and 50 age‑matched controls with no history of fetal loss and at least one live birth were included in the study. Complete blood counts and screening tests for coagulation (PT, APTT), APCR, and FVL (PCR) were done in all women.Results: Age of the patients ranged from 20–42 years with a mean ± SD of 27.4 ± 4.8 years. Prolonged PT and APTT were observed in 2% and 8% cases, respectively. None of the controls had prolonged PT/APTT. APCR was observed in 8% cases and 2% controls. The prevalence of APCR was higher in women with first‑trimester fetal loss (24.2%) as compared to women with the second trimester (13.3%) fetal loss. FVL was not observed in any of the cases or controls.Conclusion: This study indicates that FVL mutation is not associated with RFL in the Indian population while APCR is observed in Indian women with RFL. Key words: Activated protein C resistance; factor V Leiden; recurrent fetal loss; thrombophilia

Correlation of expression of aberrant immunophenotypic markers in T-ALL with its morphology: A pilot study

INTRODUCTION: Aberrant expression of immunophenotypic markers is commonly found in patients of acute leukemia. T-ALL also shows aberrant markers such as CD13, CD33, CD117, CD10, and CD79a. Morphologically, T-ALL has been categorized into L1, L2, and L3 subtypes. Till now, no study has been done to correlate these markers with morphological features of T-ALL. This study aimed to correlate the expression of aberrant immunophenotypic markers with morphology in T-ALL. MATERIALS AND METHODS: All the cases of T-ALL diagnosed by flow cytometry over a period of 2½ year were taken out from the records of Hematology Section of Department of Pathology of University College of Medical Science and Guru Teg Bahadur Hospital and Max Hospital, Saket. Their peripheral blood smear was screened to correlate the morphology of blasts with the expression of aberrant markers. RESULTS: A total of 40 cases of T-ALL were identified during 2½ year period of our study. Morphological correlation was available for 23 cases. Aberrant expression of CD10 was present in 6 (35.3%) cases, CD79a in 9 (47.36%) cases, CD117 in 5 (42.28%) cases and myeloid antigen CD33 in 5 (38.46%) cases. CD117 and CD33-positive cases showed L2 morphology with the presence of convolutions, while cases with expression of CD79a had L1 morphology with absent-slight convolutions. CD10-positive cases had L1/L2 morphology with absent occasionally present convolutions. CONCLUSION: There seems to be an association of aberrant markers with L1 and L2 morphology. However, this needs to be tested for statistical significance on a larger sample size

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-Hodgkin's lymphoma, and multiple myeloma; moderate concordance was found in hypoplastic marrow and concordance was low in Hodgkin's 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

Serum ferritin <70 μg/L predicts functional iron deficiency in patients with chronic kidney disease

Anemia is a common complication of chronic kidney disease (CKD) which is treated by erythropoiesis-stimulating agents. However, most of the patients do not respond adequately due to the development of functional iron deficiency (FID). The study was conducted to explore the value of inflammatory markers, high sensitivity C-reactive protein (hsCRP) and interleukin-6 (IL-6) along with serum ferritin (SF) in the diagnosis of FID. Seventy-seven clinically diagnosed patients of CKD (Stage 3, 4, and 5) of either sex, age >18 years with hemoglobin 12 μg/L - SF <70 μg/L was able to identify 14/19 cases of FID. Furthermore, hsCRP further stratified the subgroup of CKD patients in which FID could be detected with higher sensitivity and specificity