Analytical performance evaluation of a high-volume hematology laboratory utilizing sigma metrics as standard of excellence.

INTRODUCTION: Around two-thirds of important clinical decisions about the management of patients are based on laboratory test results. Clinical laboratories are required to adopt quality control (QC) measures to ensure provision of accurate and precise results. Six sigma is a statistical tool, which provides opportunity to assess performance at the highest level of excellence. The purpose of this study was to assess performance of our hematological parameters on sigma scale in order to identify gaps and hence areas of improvement in patient care. METHODS: Twelve analytes included in the study were hemoglobin (Hb), hematocrit (Hct), red blood cell count (RBC), mean corpuscular volume (MCV), red cell distribution width (RDW), total leukocyte count (TLC) with percentages of neutrophils (Neutr%) and lymphocytes (Lymph %), platelet count (Plt), mean platelet volume (MPV), prothrombin time (PT), and fibrinogen (Fbg). Internal quality control data and external quality assurance survey results were utilized for the calculation of sigma metrics for each analyte. RESULTS: Acceptable sigma value of ≥3 was obtained for the majority of the analytes included in the analysis. MCV, Plt, and Fbg achieved value of <3 for level 1 (low abnormal) control. PT performed poorly on both level 1 and 2 controls with sigma value of <3. CONCLUSIONS: Despite acceptable conventional QC tools, application of sigma metrics can identify analytical deficits and hence prospects for the improvement in clinical laboratories.

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Pakistani population.

INTRODUCTION: Glucose-6-phosphate dehydrogenase (G6PD; E.C. 1.1.1.49) deficiency is the commonest inborn error of metabolism with more than 140 genetic variants. The incidence of G6PD deficiency is 2-9% in Pakistan, but G6PD variants were never studied comprehensively. We therefore designed this study to describe the frequency of G6PD variants and their associated enzyme activities in Pakistan. METHODS: Patients diagnosed with G6PD deficiency were enrolled. RFLP-PCR was utilized to identify common mutations previously reported from Asian countries. Where mutational analysis failed, amplification of 9-12 exons with subsequent gene sequencing was performed. G6PD enzyme activity was assessed through the quantitative enzyme assay. RESULTS: Two hundred and seventy-six G6PD-deficient subjects (237 male and 39 women) were investigated. G6PD Mediterranean (563C-T) was the most common genetic variant (n=216 or 78%). G6PD Chatham (1003A-G) and G6PD Orissa (131C-G) were observed in 14 (5%) and two (0.7%) subjects respectively. A novel mutation 973 G-A with a predicated amino acid change of asp325asn was identified in exon 9. This was named G6PD Karachi after the place of origin of proband. Polymorphism in position 1311C/T was uniformly observed with all variants. Forty-three or 17% of DNA samples remained uncharacterized. Very low levels of G6PD enzyme activity was observed with 563C-T mutation. CONCLUSION: We concluded that 563C-T was the commonest G6PD variant, while 1003A-G and 131C-G were less-frequent genetic variants of G6PD in Pakistani population. A novel genetic variant 973G-A was also identified. Very low levels of G6PD enzyme activity was seen with G6PD 563C-T. Mutational analysis failed in a significant proportion of samples warranting further work.

Azurophilic inclusions in plasma cells.

We report a 45-year-old man with complaints of chest pain and weight loss who was referred for a bone marrow/trephine procedure to the Aga Khan University Hospital. Bone marrow examination showed plasmacytosis of 95% with plasma cells containing coarse Auer rod-like azurophilic inclusions, which failed to stain positively with Sudan Black B or periodic acid Schiff stain. These inclusions have rarely been previously reported as they are more significant morphologically rather than having a prognostic value.