American journal of blood research最新文献

Venous thromboembolism (VTE) is a multifactorial disease that results from the interaction of both inherited and acquired risk factors. The complications of these risk factors often lead to significant morbidity and mortality. There are many inherited thrombophilia risk factors, such as factor V Leiden (FVL) and prothrombin gene mutation (PT). The prevalence of these mutations varies among geographical locations and ethnic groups.

Objectives: This is a retrospective analysis of laboratory data aimed to estimate the laboratory-based frequency of FVL and PT mutations and assess the concordance between the coagulation assay and FVL molecular test.

Methods: The study reviewed the frequency of positive blood samples tested by molecular and functional-based techniques. The demographic and laboratory data of patients tested in molecular and coagulation laboratories at the Institute for Thrombophilia were reviewed and analyzed.

Results: A total of 1524 samples were tested for FVL, 1023 for PT, and 1057 for APCR. Results showed that 90 (5.9%) patients were positive for FVL, 30 (2.93%) for PT mutations, and 95 (8.99%) had low APCR, while 38 (3.69%) patients had low APCR with no FVL mutation.

Conclusion: This study reports high positive results among patients tested as part of thrombophilia workup or screening for other clinical conditions associated with the increased risk of thrombosis. The limitation of this study was that it had minimal clinical correlation because the data were collected retrospectively from laboratory records.

T cell large granular lymphocytic (T-LGL) leukemia is a rare type of mature T cell neoplasm. The typical features of T-LGL leukemia include an increased number of large granular lymphocytes in the peripheral blood, cytopenia (most commonly neutropenia), and mild-to-moderate splenomegaly. Up to 28% of patients with T-LGL leukemia have rheumatoid arthritis (RA). This study reports ten atypical cases (seven women and three men, median age 60.5 years) of RA-associated T-LGL leukemia presenting with lymphopenia, severe neutropenia, and marked splenomegaly. The weight of the spleens ranged from 892 to 2100 g (median 1100 g). Bone marrow histology and differential counts of bone marrow aspirates revealed no peculiarities in nine of ten cases. The red pulp of the spleen was expanded and showed moderate to strong infiltration by medium-sized slightly pleomorphic lymphocytes in nine cases and subtle infiltration in one. Although lymphocytic infiltration involved both cords and sinusoids, it was more apparent within the splenic cords. The white pulp was preserved and contained prominent germinal centers in eight patients and was atrophic in two patients. Immunohistochemically, malignant lymphocytes were CD3+, CD43+, and CD4- in all cases and TIA-1+ in nine out of ten. TCRαβ positivity and TCRγδ positivity was observed in six and four cases out of ten, respectively. All ten patients had T cell clonality in the spleen tissue, but in three cases it was absent in both blood and bone marrow. STAT3 mutations in the spleen tissue were detected in three of ten cases. In all eight cases studied, neither isochromosome 7q nor trisomy 8 was detected in the spleen tissue. Cases of RA-associated T-LGL leukemia with low LGL count in the peripheral blood, neutropenia, and marked splenomegaly present a diagnostic challenge and can be misdiagnosed as Felty's syndrome or hepatosplenic T cell lymphoma.

Hemophilia is a bleeding disorder characterized by the deficiency of a coagulation factors. The hemarthrosis is the most common and earliest manifestation. Repeated hemarthrosis over time causes the development of hemophilic arthropathy. Among most involved joints, the ankle is the one where much uncertainty remains about the best course of action in managing the various degrees of hemophilia manifestations. These manifestations range from simple acute swelling and pain to devastating deformity. The purpose of our review is to draw a comprehensive picture of ankle hemophilic arthropathy epidemiology, pathophysiology, clinical symptoms and signs, radiological features and all the treatments available at present days. This review confirms that the first line of treatment considered should be the replacement therapy of the coagulation deficient factors that, preventing hemarthrosis, stops the development and progression of ankle's joint damage. The treatments proposed in literature for advanced stage of arthropathy are many and vary according to the severity of the case. They range from conservative ones such as physiotherapy, orthosis, intra-articular injections, laser therapy, external beam radiation therapy, radio-synovectomy and oral drug to invasive surgical treatment such as ankle arthrodesis and total ankle replacement. Whatever is the chosen treatment, according to the arthropathy severity we believe that it must be carried out in reference centers for foot and ankle surgery assisted by expert hematologists.

Objective: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is associated with a risk of graft-versus-host disease (GvHD) and infections. The pathogenesis of acute GvHD is related to T-lymphocytes, which identify alloantigens on host antigen-presenting cells, induce production of interferon (IFN) gamma and interleukin (IL)-2, recruit immune effector cells and destroy tissues and organs.

Material and methods: The study involved 62 patients, 30 (48%) men and 32 (52%) women [median age 49.5; (19-68) years] after myeloablative conditioning (MAC) n = 26 (42%) or reduced intensity conditioning (RIC) n = 36 (58%) therapy before allo-HSCT from a sibling (n = 12) or unrelated (n = 50) donor due to acute myeloid leukemia (AML). All patients received standard immunosuppressive therapy with cyclosporine A and methotrexate plus pre-transplant anti-thymocyte globulin in the unrelated transplant setting. Blood samples were collected pre-transplant before the start of and after conditioning therapy (1 day pre-transplant) and 2, 4, 6, 10, 20, 30 days following allo-HSCT. The analysis of potential risk factors included IL-2 and IFN-gamma concentrations, patients' age, the use of MAC/RIC and CR/non-CR status before transplantation.

Results: The statistical analysis revealed that independent risk factors for aGvHD included non-CR status before allo-HSCT [odds ratio (OR) = 10.52, P = 0.040], the use of MAC [hazard ratio (HR) = 4.80, P = 0.007] and a high level of IFN-gamma on day 6 post-transplant (HR = 1.03, P = 0.032). MAC was also the independent risk factor for infectious complications (OR = 4.04, P = 0.024).

Conclusion: A high level of IFN-gamma on day 6 post-transplant, non-CR status before allo-HSCT and the use of MAC are independent risk factors for aGvHD. MAC is also the independent risk factor of infectious complications.

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%.

Objectives: Hospital Acquired Infection (HAI) is a major cause of morbidity and mortality in hemato-oncology. The study aims to report the incidence of hospital-acquired infections in patients with hematological malignancies and the risk factors associated with them.

Material and methods: An observational study with cross-sectional data collection was carried out from January 1, 2019, to April 30, 2020, in the department of hematology of Brazzaville University Hospital. The study concerned 77 patients diagnosed with hematological malignancies admitted for a course of chemotherapy. Written consent was obtained from each participant. Participants were divided into two groups: with HAI (n=50) and without HAI (n=27). They were compared using the chi-square test and Student's T-test. Univariate and multivariate analyses of the association of HAI with all the risk factors were performed for analysis of the 2 x k contingency tables and repeated using logistic regression.

Results: The cumulative incidence was 64.9% with a 95% confidence interval of [53.8-74.7]. The time to onset of HAIs was 10.6±6.50 days. The incidence of HAI was significantly greater in acute myelogenous leukemia (80%), grade 4 neutropenia (80%). The risk factors were hospitalization stay of over 14 days (OR: 1.09), the regimen: daunorubicin-aracytine (OR: 5.96), the hemoglobin level on admission (OR: 0.72), and the neutropenia of grade 4 (OR: 7.9). The most common clinically identified focus of infection was peripheral venous infections. The fatality rate was 10%.

Conclusion: The determination of HAI and the identification of its risk factors make it possible to establish prevention strategies.

Background: There is scarcity of data on association between lung function and cardiac markers in patients with sickle cell disease (SCD). Meanwhile, SCD affects multi-organs in any one population. There seem to be an association between reduced pulmonary function with cardiac dysfunction. The current study examined the association between pulomanry function with cardiac markers in patients with SCD.

Methodology: This was a cross-sectional study with cases and controls. The cases (n=117) were made up of patients with SCD. The control subjects (n=58) were voluntary blood donors without SCD. The cellulose acetate electrophoresis was used to determine the genotypes of the study subjects. Blood samples were collected from all the study subjects for full blood count and measurement of cardiac enzymes. The cardiac enzymes measured were lactate dehydrogenase (LDH) and creatine kinase-myocardial band (CK-MB). Lung function test, using the vitalograph was done on all the study subjects. The Global Lung Initiative criteria were used to categorize lung disease as obstruction, restriction, mixed obstruction/restriction and normal.

Results: The prevalence of elevated CK-MB and LDH among the SCD patients was 76.92% and 9.40% respectively, higher than the non-SCD controls (51.72% and 0% for elevated CK-MB and LDH respectively). Of all the impaired lung function, lung restriction was prevalent in all the study groups (30.77% and 15.52% for SCD patients and non-SCD controls respectively). In the fully adjusted model, reduced FEV1 was associated with nearly 3.5-fold higher odds of elevated CK-MB (odds ratio 3.35, 95% CI 1.26-8.90, p-value 0.015) in individuals with SCD.

Conclusion: Reduced FEV₁ which reflects airflow impairments are associated with CK-MB elevations in patients with SCD, suggesting a possible damage to the cardiomyocytes.

Introduction: Sickle cell disease (SCD) is a chronic illness that presents with a wide range of phenotypic variation. Stress may be a contributing factor to differences that are found in this population.

Objectives: Our objective is to determine the relationship between hair cortisol content (HCC), a biomarker of stress, and other clinical measures in individuals with SCD.

Methods: We collected hair samples and other clinical measures from 73 subjects with SCD (mean age: 39 ± 12 years, 63% female).

Results: HCC was lower among individuals who had greater than 30% hemoglobin S, compared with those who had less than 30% hemoglobin S (W=272.5, P=0.01). Lower HCC was also associated with report of not being on a chronic transfusion program (β=48.34, SE=14.09, P=0.001) and higher ferritin levels (β=-0.006, SE=0.002, P=0.02). Furthermore, HCC was significantly correlated with serum cortisol (r_s=0.26, P=0.03) and corticosterone (r_s=0.29, P=0.01). We also observed a consistent pattern of low steroid values among our population.

Conclusion: Our findings suggest that individuals with higher hemoglobin S and ferritin, both markers of severe SCD, may have decreased cortisol levels. This is consistent with the relationship we observed between higher HCC among individuals who are on a chronic blood transfusion program, which typically increases quality of life. Our results suggest that hair cortisol may be an indicator in patients with SCD who could be at risk for developing adrenal insufficiency. We recommend that clinicians treating patients with SCD follow the Endocrine Society guidelines for testing for adrenal insufficiency and treat accordingly.

Background: Engraftment of neutrophils and platelets after hematopoietic stem cell transplant (HSCT) is imperative for optimal outcomes. Eltrombopag has been used in adults after HSCT to boost platelet production. Its use in pediatric post HSCT patients has been limited.

Methods: The clinical and laboratory details of a post autologous HSCT patient were fetched by a retrospective review of the records.

Results: A 5-year old male child had primary thrombocytopenia post autologous HSCT for refractory Hodgkin lymphoma. Although the stem cell dose infused was adequate, the child had a delay in the engraftment of platelets. After ruling out the causes of post HSCT thrombocytopenia, eltrombopag was started for the child. With the use of eltrombopag, normal thrombopoiesis was restored in the child.

Conclusion: Eltrombopag was effective and safe in overcoming post-HSCT primary thrombocytopenia in our patient.

Autoimmune Hemolytic Anemia (AIHA) occurs in 10% to 25% of Chronic Lymphocytic Leukemia (CLL) while Direct Antiglobulin Test (DAT) positivity seen in 35% of cases. The prevalence and prognostic significance of DAT positivity is not well documented especially in Indian population. The present study was undertaken to know prevalence and prognostic significance of DAT positivity in CLL in India by associating it with stage and CD 38 expression. The study included fifty-eight newly diagnosed and untreated cases of CLL staged according to Binet and Rai system. Complete hemogram, DAT and immuno-phenotyping by flow cytometry was done to diagnose CLL and to assess CD 38 expression. Student's t test and Chi square test was used to calculate difference between means. p value ≤0.05 was considered significant. Results-DAT positivity was found in 27.58% cases. A positive association was seen between DAT and advanced Rai and Binet stage (P = 0.024 and P = 0.014 respectively). A positive association was also seen between DAT and CD 38 (P = 0.008). The study concluded that DAT positivity in Indian CLL patients is high as compared to West. As DAT correlated with advanced Rai/Binet stage, as well as CD 38 positivity, it can be considered as a surrogate marker for advanced disease and used to select patients needing close follow up especially at places where molecular and flow cytometric set up for prognostication is not available.