International journal of laboratory hematology最新文献

Introduction: Thrombophilia, a blood coagulation disorder, poses risks of venous thromboembolism (VTE). Coagulation assays may not be sufficient to assess VTE risk and global assays such as Rotational Thromboelastometry (ROTEM) may add valuable information. We investigated ROTEM's capacity to detect hypercoagulability in patients undergoing thrombophilia screening, its potential impact on patient outcomes, and limitations.

Methods: Comprehensive clinical, laboratory, genetic tests, and ROTEM (EXTEM and INTEM) were conducted for 356 patients referred for thrombophilia screening at an academic hospital outpatient unit. Hypercoagulability was identified as a shorter clot formation time (CFT), larger alpha angle (AA), and greater maximum clot firmness (MCF), and was compared in patients with and without VTE. Statistically this was analyzed using Mann-Whitney U and Chi-square tests with p < 0.05 considered significant.

Results: Among 356 patients, 64.6% had previous VTE, with 76.9% experiencing one event, 14.3% recurrent (35.6% unprovoked, 64.4% provoked). 22.5% of patients were on anticoagulation. Those with VTE history exhibited significant alterations in EXTEM and INTEM parameters compared to those without (p < 0.001), showing decreased CFT and increased AA and MCF. However, receiver operating characteristic curves for these variables indicated that none were able to discriminate between those individuals with and without thromboembolic complications.

Conclusion: ROTEM does not appear to be a strong discriminatory test. However, it can detect hypercoagulopathy in patients referred for thrombophilia screening. Abnormal ROTEM may indicate a higher risk for recurrence. However, this can only be determined in prospective cohort studies.

Introduction: Activated protein C resistance (APCR) represents a risk factor for thrombosis and is usually due to factor V Leiden (FVL). Clinicians may order either test (i.e., APCR or FVL) to help assess 'thrombophilia' in patients who present with thrombosis. APCR testing is usually achieved using clot-based assays, whereas FVL is assessed by genetic testing. There are advantages and disadvantages to either approach.

Methods: We report updated findings for APCR testing in our geographic region, in part using recent data from the RCPAQAP, an international external quality assessment (EQA) program, with some 50-60 participants for APCR testing over the past decade. Data have been updated to cover the past 13 years (2010-2023 inclusive), with four samples assessed each year, but with a primary focus on new data from 2020 to 2023 inclusive. In addition, data for APCR testing over several years from four large tertiary-level hospital laboratories have been assessed following a recent change in instrumentation and haemostasis methods.

Results: EQA data continue to show variable performance in both numerical values and their interpretation for APCR testing, with certain methods providing more consistently correct findings than others. In addition, participant interpretation of their own numerical values and transcription errors seem problematic. Finally, the change in recent laboratory testing has also evidenced local improvements.

Conclusion: APCR assays and testing laboratories continue to show variability in performance, with two methods (Pefakit and Staclot) showing the best performance overall. Targeted education may be of benefit, as most of the errors appear to originate from a small proportion of laboratories.

Objective: The modern treatment protocols in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) are based on the disease's genetic characteristics and response to treatment. We propose a novel five-probe FISH strategy to risk stratify the BCP-ALL and compare its ability with the triple trisomy probe strategy to detect high hyperdiploidy.

Methods: All newly diagnosed BCP-ALL cases were investigated using a five-probe FISH panel that included probes targeting BCR::ABL1 fusion, ETV6::RUNX1 fusion, and break-apart probes for KMT2A, IgH, and CRLF2 rearrangements. Further, a selected number of cases were screened by the triple trisomy probe of 4p11/CEN10/17 (Zytovision, Bremerhaven, Germany) to identify aneuploidy.

Results: Of the 380 patients of BCP-ALL screened (≤ 18 years: 57.9%; > 18 years: 42.1%) using this five-probe strategy, we could assign clinically relevant eight risk groups to almost two-thirds of the patients (similar to the available literature). Compared with the widely accepted triple trisomy probe strategy, we found concordant findings in 75.5% of the patients; the triple trisomy probe could not identify high hyperdiploidy in 24.5% of patients. We observed the presence of (non-CRLF2) IgH rearrangement in 5.3% of patients.

Conclusions: We conclude that the proposed five-probe FISH strategy is better equipped to more comprehensively risk stratify BCP-ALL patients, with an increased ability to identify high hyperdiploidy and a subset of Ph-like-BCP-ALL.

Introduction: The causes of nonsyndromic platelet storage pool disease are still unclear, and whether they are of genetic or acquired origin remains to be defined. The study aimed to describe the characteristics and natural history of this disorder.

Methods: This mostly retrospective cohort enrolled adults presenting with bleeding from platelet dysfunction. Platelet glycoprotein defects, von Willebrand disease, syndromic inherited platelet disorders and known acquired platelet dysfunctions were excluded. Available patients were retested by lumiaggregometry (Chrono-Log) over 1 year after the initial diagnosis.

Results: There was a total of 56 patients; 91% female, with a median diagnostic age of 28 years (interquartile range [IQR]: 24.5-38.5). The subnormal responses to ADP, epinephrine, collagen, and arachidonate were found in 91%, 82%, 55%, and 34%, respectively. Nineteen patients had von Willebrand factor levels measured. Twenty-three subjects underwent repeat tests. Twenty-one of them were female (91%), with a median age and follow-up time of 37 years (IQR: 28-55) and 6 years (IQR: 3-12), respectively. Median ISTH-BAT bleeding scores at diagnosis and follow-up were 5 (IQR: 3-8) and 1 (IQR: 0-2), respectively. The common abnormalities were reduced responses to ADP combined with other agonists (83%). Twelve (52%) and five (22%) showed complete and partial platelet function recovery, respectively. None of the partial and non-recovery groups had a bleeding score over 4 at follow-up.

Conclusions: Idiopathic mild platelet dysfunction was female-predominant and showed spontaneous symptom resolution after a long follow-up. Platelet function recovery was observed in most cases. Exogenous factors triggering this condition remain to be identified.

Introduction: Deep vein thrombosis (DVT) is a common condition associated with significant morbidity and mortality. However, the detailed mechanisms of coagulation and fibrinolysis in DVT have not been adequately investigated. Recently, clot-fibrinolysis waveform analysis (CFWA) has been developed to assess coagulation and fibrinolysis reactions as one global assay. This study aimed to investigate the mechanisms of DVT using CFWA.

Methods: DVT diagnosis and definition were conducted by the ultrasonography finding, and the numbers of patients of confirmed DVT and non-DVT were 39 and 56, respectively. Activated partial thromboplastin time-based CFWA was conducted, and the first-derivative curves were analyzed. The curves were separated into two phases: coagulation and fibrinolysis, and the curve shapes were compared between the two groups.

Results: The shapes of first-derivative curves in the coagulation phase for the DVT group were significantly different from those of the non-DVT group, and the curves of the DVT group were sharper and narrower than those of the non-DVT group. Both parameters indicating height and width in the DVT group were significantly lower than the non-DVT group. However, no significant differences were observed in the fibrinolysis phase between two groups.

Conclusion: The DVT group showed different first-derivative curves in the coagulation phase compared to the non-DVT group in the CFWA assay, suggesting that the DVT group had a higher coagulability status. CFWA could be a useful tool for identifying coagulability status in patients with DVT.

Introduction: This study evaluated the analytical performance of the Mindray BC-6200 analyzer for reticulocyte counting, with a focus on imprecision, carryover, and time stability. The accuracy of reticulocyte count was compared with the manual microscope (MM) and flow cytometry (FC), the reference method. Additionally, reference intervals (RIs) of reticulocyte count and related parameters were established for the Thai population.

Methods: Sixty healthy Thai adults of both sexes along with 182 leftover blood samples from individuals with various pathologic conditions, were selected to evaluate reticulocyte counts using the automated Mindray BC-6200. Results were compared with MM and FC to establish RIs and assess the correlation between methods.

Results: The imprecision on reticulocyte counts across all control levels (coefficient of variation, %CV) was below the manufacturer's claim. Carryover was < 0.001%, and time-stability was excellent up to 24 h. RIs were as follows: reticulocytes (×10⁹/L): 34.88-118.50, immature reticulocyte fraction (IRF) (%): 2.71-15.28, reticulocyte Hemoglobin content (RHE) (pg): 22.84-29.70. There was a strong correlation (r > 0.9785) in reticulocyte counts between the automated analyzer, MM, and FC.

Conclusion: The Mindray BC-6200 is a reliable alternative to MM and FC methods for reticulocyte counting, with a good correlation, precision, low carryover, and time stability, making it effective for assessing erythropoiesis in clinical settings. However, further studies are needed to evaluate the clinical utility of reticulocyte count and related parameters in diagnosing hematological conditions.