Qanita Sedick

Introduction: Iron deficient erythropoiesis and Thalassaemia are both associated with microcytic erythropoiesis albeit from different pathological mechanisms. Given the high prevalence of Hemoglobinopathies in the Mediterranean region, discriminating these two conditions is important. Several algorithms using conventional red cell indices have been developed to facilitate diagnosis, however, their diagnostic accuracy is low. The new generation haematology analyzers enabled the use of more innovative parameters such as reticulocyte parameters. We aimed to evaluate the diagnostic performance of the reticulocyte parameters on the Sysmex XN 1000 to distinguish between IDA and Thalassemia in our population. Methods: We performed a retrospective analysis of blood samples sent to our laboratory for haemoglobin electrophoresis screening. We categorized our cohort into Thalassemia and Iron Deficient patients based on known diagnostic criteria. We analyzed the reticulocyte parameters using receiver operator curve analysis (ROC) and determined the cut off value for each parameter. Results: Reticulocyte parameters most accurate for discriminating IDA from Thalassemia patients was: RET, RET-HE and IRF. The RET-HE had the best statistical significance for IDA patients with AUC = 0.69 for cut off 22.25. The RET-HE for dual positive patients was more accurate with AUC = 0.78 for cut off 21.25. The IRF had the best statistical significance for Alpha Thalassemia with AUC = 0.66 for cut off value 18. Conclusion: An IRF cut off below 15.5 and RET-HE cut off below 22.25 was the most accurate variable in predicting IDA with a sensitivity of 59.4% and 68.3%.

Background: Childhood Acute Leukemia (AL) is characterized by recurrent genetic aberrations in 60% of AML cases and 90% of ALL cases. Insufficient data exists of rare cytogenetic abnormalities in AL. Therefore, we tested rare cytogenetic abnormalities occurring in childhood AL and its effect on clinical prognosis in patients diagnosed at our institution from 2010 to 2017. Results: Among 150 cases of AL, we detected 9 cases with rare chromosomal abnormalities. We found two hypodiploid (2n-) cases: 2n-,t (5;14)(q31;q32) and t (3;11;19)(q21;q23;q13.1) in ALL patients. AML patients showed t (7;14)(q22;q32), t (11;17)(p15;q21), t (11;20) (p15;q11), t (12;17)(q15;q23) and t (11;20)(p15;q11). Both t (1;15)(q10;q10) and t (17;19)(q21;p13.3) occurred in a case with biphenotypic AL. Complete remission (CR) status was attained in 3 patients and 6 patients never attained CR or relapsed/demised. Conclusion: The study highlighted that rare cytogenetic abnormalities are associated with a poor prognosis. This finding is not well reported in the literature suggesting that ongoing cytogenetic studies for rare abnormalities associated with pediatric leukaemia are warranted.

Background. Tuberculosis (TB) remains a global health problem. According to the 2013 Global Report on Tuberculosis, 8.6 million people developed TB in 2012 and 1.3 million died from the disease. An estimated 13% of people who developed TB in 2012 were HIV-positive, and 75% of these lived in Africa. While pulmonary TB is the commonest form of Mycobacterium tuberculosis infection, extrapulmonary TB is increasingly being detected in HIV-positive patients. Definitive diagnosis of disseminated TB is a challenge owing to atypical presentations and diagnostic difficulties (negative chest radiograph and sputum microscopy and culture). A rapid diagnosis of disseminated TB is desirable, as early initiation of treatment can reduce mortality. Although TB culture is the gold standard for diagnosis of TB, it has a long turnaround time (up to 6 weeks). Objectives. To identify a potentially faster and more effective diagnostic strategy for disseminated TB. Methods. A retrospective 18-month review, conducted at a tertiary hospital, comparing histological findings of an auramine O-stained bone marrow aspiration (BMA) smear and a bone marrow trephine (BMT) biopsy specimen with the gold standard of TB culture. Results. Microscopic examination of BMA smears and BMT biopsy specimens offers a rapid diagnostic strategy, with results available on the same day for the former and within 4 days for the latter. BMT histological examination had a significantly higher detection rate than BMA auramine O staining compared with TB culture. Conclusion. We recommend that BMT biopsies remain an essential part of the diagnostic work-up for disseminated TB.