Journal of hematology最新文献

{"title":"Non-Secretory Multiple Myeloma Associated With High-Risk Phenotype and Complex Cytogenetics Including t(8;22).","authors":"Rahim A Jiwani, Joseph R Liput, Attah Abraham, Khaled Alhamad, Mukta Kapdi, Renan Mota, Kayla Forte, John R McGill, Jasper C Acer, Palgun Nisarga, Nicholas R Jaeger, Santhosh Sadashiv, Prerna Mewawalla","doi":"10.14740/jh1248","DOIUrl":"10.14740/jh1248","url":null,"abstract":"<p><p>Multiple myeloma (MM) is a plasma cell dyscrasia which is typically characterized by identifiable paraprotein in the blood or urine. However, the minority of patients in whom paraprotein cannot be identified are designated non-secretory MM (NSM). Evaluation of treatment response is more difficult in these patients as paraprotein levels cannot be followed. A dearth of clinical trials including these patients exists because of an inability to measure response by classical serum and urine measurement mechanisms as well as seemingly decreased overall survival compared to secretory MM. NSM is subdivided into four subgroups: \"non-producers\", \"true non-secretors\", \"oligosecretors\" and \"false non-secretors\". The \"non-producers\" phenotype is associated with more aggressive disease course. Translocations such as those involving the proto-oncogene <i>c-MYC</i> (chromosome 8) and the lambda light chain gene <i>IGL</i> (chromosome 22) - more commonly associated with Burkitt lymphoma - are rare in MM. We describe a 60-year-old male with NSM who was identified as having multiple high-risk features including complex cytogenetics and a non-producer phenotype, which are features not considered in conventional MM staging and risk stratification. This case highlights the need for awareness of phenotypes and cytogenetics associated with higher clinical risk that are not included in the revised International Staging System.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Hemoglobinopathy That Produces an Array of Different Hemoglobin A1c Values.","authors":"Maximo J Marin, Bremansu Osa-Andrews, Patrick A Maher, Clive Wasserfall, William E Winter, Ashraf B Muzwagi, Neil S Harris","doi":"10.14740/jh1268","DOIUrl":"10.14740/jh1268","url":null,"abstract":"<p><p>Hemoglobin A1c (HbA1c) refers to non-enzymatically glycated hemoglobin and reflects the patient's glycemic status over approximately 3 months. An elevated HbA1c over 6.5% National Glycohemoglobin Standardization Program (NGSP) (48 mmol/mol the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC)) can be used to diagnose diabetes mellitus. In our laboratory, HbA1c is determined by ion-exchange chromatography which has the advantage of detecting common Hb variants such as Hb S, C, E and D without adversely affecting the HbA1c determination. Certain homozygous or compound heterozygous hemoglobinopathies such as homozygous sickle disease and Hb SC disease can significantly lower the HbA1c by reducing red cell lifespan. Occasionally however, rare and mostly benign hemoglobinopathies can interfere with this technique resulting in an apparent elevation of HbA1c in an otherwise non-diabetic patient. In this report, we describe such a hemoglobinopathy termed Hb Wayne that resulted in a significant HbA1c elevation in a normoglycemic individual. HbA1c was determined by multiple methods including immunoassay, a modified capillary electrophoresis and an alternative ion-exchange system. These techniques yielded significantly lower A1c results, more in keeping with the patient's clinical background. The alternative ion-exchange system resulted in a low A1c that was qualified by warning flags on the chromatogram that indicated the result was not reportable. The hemoglobinopathy in question, Hb Wayne, is a frameshift mutation in the alpha globin gene that results in an extended alpha globin polypeptide that can form two variants Hb Wayne I and Wayne II. Hb Wayne is a clinically silent asymptomatic disorder with no hematologic consequences. The artifactual elevation of HbA1c is, in contrast, very significant because it may result in a misdiagnosis of diabetes mellitus leading to unnecessary treatment. In this report, we compare our findings with other descriptions of Hb Wayne in the literature and corroborate a number of previous observations and conclusions.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fat Embolism Syndrome Mimicking Thrombotic Thrombocytopenic Purpura in a Patient With Hemoglobin S/Beta-Thalassemia.","authors":"Bobby Se, Austin Frisch, Min Woo Hwang, Faran Polani, Najeebah Bade","doi":"10.14740/jh1274","DOIUrl":"10.14740/jh1274","url":null,"abstract":"<p><p>Thrombotic microangiopathies cause ischemic organ damage and require urgent management for a favorable prognosis. Fat embolism syndrome from bone marrow necrosis is a rare and unique pathology that carries a high mortality rate. It can mimic thrombotic microangiopathies such as thrombotic thrombocytopenic purpura (TTP). Herein, we present a patient with sickle cell-beta-thalassemia who initially presented with a vaso-occlusive crisis, lab evidence of hemolysis, schistocytes and thrombocytopenia who developed acute encephalopathy with respiratory distress, consistent with TTP. She was found to have multiple infarcts in the brain. She was intubated and underwent plasma and red cell exchange. Bone marrow biopsy confirmed marrow necrosis from her vaso-occlusive crisis and subsequently, fat embolism syndrome. Here, we discuss the complex presentation and the complications of fat embolism from bone marrow necrosis and how it can mimic TTP.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Venous Thromboembolism Following COVID-19 Vaccination in Patients With Hereditary Protein S Deficiency.","authors":"Molly Rayner, Kelsey Brose","doi":"10.14740/jh1278","DOIUrl":"10.14740/jh1278","url":null,"abstract":"<p><p>Hereditary protein S (PS) deficiency is a rare condition associated with increased risk of venous thromboembolism (VTE). In 2020, the coronavirus disease 2019 (COVID-19) pandemic prompted development of vaccinations to protect against the virus. PS deficiency is not a contraindication to COVID-19 vaccinations, but there are no studies regarding potential adverse effects in this population. We report two cases, a 43-year-old mother and her 18-year-old son, who developed VTE shortly after their first COVID-19 vaccines. Testing confirmed hereditary PS deficiency with a previously undescribed mutation in both cases. The temporal association between COVID-19 vaccination and VTE in these patients with hereditary PS deficiency suggests a potential causal relationship. However, it is unclear if this applies to all patients with hereditary PS deficiency. This highlights the importance of reporting adverse events following COVID-19 vaccinations in this population to evaluate the risks and benefits of vaccination.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent Infection in a Young Female Patient Recently Diagnosed With Primary Evans Syndrome Without Neutropenia.","authors":"Jennie An, Preye Amaruntowa, Waleed Ahmed, Ali Khan, Muhammad Shahzad","doi":"10.14740/jh1265","DOIUrl":"10.14740/jh1265","url":null,"abstract":"<p><p>Evans syndrome (ES) is a rare autoimmune condition of unknown etiology that occurs in a small subset of patients diagnosed, either sequentially or concomitantly, with immune thrombocytopenia (ITP) or warm autoimmune hemolytic anemia (AIHA). Neutropenia is present occasionally. Diagnosis is based on exclusion with a median age of 52 years of age. Here we have a case of a young patient with ES presenting with recurrent infection. ES should be included in differential diagnoses for patients presenting with AIHA, ITP, cytopenias or recurrent infection as the prognosis is more favorable when diagnosis is made early and symptoms are still mild.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sickle Cell Screening in Adults: A Current Review of Point-of-Care Testing.","authors":"Sebastian R Mendez-Marti, Chad Zik, Sheinei Alan, Hongkun Wang, William B Ershler","doi":"10.14740/jh1272","DOIUrl":"10.14740/jh1272","url":null,"abstract":"<p><p>In adults, the sickle cell solubility test (SCST) is the most common screening test to determine the presence of hemoglobin S (HbS) within a blood sample. The assay is inexpensive, rapid, highly sensitive and specific. However, the SCST cannot accurately quantify the level of HbS in a test sample and requires confirmatory testing to distinguish between sickle trait and sickle cell disease. Despite these limitations, it remains the standard screening tool for HbS in a variety of settings such as screening in the US military or by the National Collegiate Athletic Association. With an increased awareness of the importance of screening for sickle cell in adults, we herein describe the current sensitivity, specificity, positive predictive value, and negative predictive value of this test. We also review overall clinical utility of this laboratory measure and briefly discuss new point-of-care techniques designed to overcome the SCST's shortcomings.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling the Rare Entity of <i>KIT</i> D816V-Negative Systemic Mastocytosis.","authors":"Ruah Alyamany, Chams Alkhalaf Albachir, Sarah Alsaleh, Alaa Hamad, Sameeha Kaiser Abdulwali, Ahmad S Alotaibi, Syed Osman Ahmed, Mansour Alfayez","doi":"10.14740/jh1279","DOIUrl":"10.14740/jh1279","url":null,"abstract":"<p><p>Systemic mastocytosis (SM) is a rare type of myeloproliferative neoplasm characterized by abnormal proliferation and infiltration of different tissue by clonal mast cells. The uncontrolled proliferation and activation of mast cells trigger the release of vasoactive and inflammatory mediators, resulting in a cascade of systemic symptoms. Around 95% of SM arise from a gain-of-function mutation at the <i>KIT</i> gene, specifically at codon 816, which highlights its essential role in SM and makes it an attractive target for therapy. Although <i>KIT</i>-negative SM is exceptionally rare, the increased number of cases documented in the literature makes it an intriguing dimension of this disorder. The reported clinical manifestations of <i>KIT</i>-negative SM are widely variable, but many are similar to <i>KIT</i>-positive SM. KIT-targeted therapeutic options have been a game-changer in <i>KIT</i>-positive SM, however their role in <i>KIT</i>-negative SM remains controversial. This report aimed to further understand <i>KIT</i>-negative SM by presenting two cases of <i>KIT</i>-negative SM, one of which was responsive to KIT-targeted therapy, and analyzing reported cases in the existing literature.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Unique Case of a Compound Heterozygosity of Hemoglobin Korle-Bu and Sickle Cell Trait in a Military Trainee.","authors":"Gartrell C Bowling, Niels A Ryden, Allen R Holmes, Lauren E Lee, Kristin Stoll","doi":"10.14740/jh1257","DOIUrl":"10.14740/jh1257","url":null,"abstract":"<p><p>Hemoglobin Korle-Bu (Hb KB) is a rare and likely under-reported hemoglobin (Hb) variant resulting from an unusual point mutation on the beta-globin chain. Hb KB is typically clinically silent, and there are limited reports of Hb KB heterozygosity compounded with other hemoglobinopathies that can present with varying clinical phenotypes. Here, we report a case of compound Hb KB heterozygosity with Hb S in an asymptomatic military trainee with a positive sickle cell screening test. Hb capillary and gel electrophoresis predicted a compound Hb S/D-Punjab overlap, which foretells a severe clinical phenotype. Sequencing of the Hb beta gene <i>HBB</i> demonstrated Hb KB, allowing for a diagnosis that fit his asymptomatic clinical phenotype and allowed for retention in the military.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of Non-Variceal Hemorrhage in a National Cohort of Patients With Chronic Liver Disease.","authors":"Amber Afzal, Preethi Kesavan, Luo Suhong, Brian F Gage, Kevin Korenblat, Martin Schoen, Kristen Sanfilippo","doi":"10.14740/jh1214","DOIUrl":"10.14740/jh1214","url":null,"abstract":"<p><strong>Background: </strong>Non-variceal hemorrhage in patients with chronic liver disease (CLD) increases morbidity, mortality, and healthcare costs. There are limited data on risk factors for non-variceal hemorrhage in the CLD population. The aim of this study was to assess the predictive value of various clinical and laboratory parameters for non-variceal hemorrhage in CLD patients.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of US veterans diagnosed with CLD between 2002 and 2018 within the Veterans Health Administration database. We derived candidate variables from existing risk prediction models for hemorrhage, risk calculators for severity of liver disease, Charlson index of prognostic comorbidities, and prior literature. We used a competing risk analysis to study the relationship between putative risk factors and incidence of non-variceal hemorrhage in patients with CLD.</p><p><strong>Results: </strong>Of 15,183 CLD patients with no history of cancer or anticoagulation use, 674 experienced non-variceal hemorrhage within 1 year of CLD diagnosis. In multivariable analysis, 11 of the 26 candidate variables independently predicted non-variceal hemorrhage: race, international normalized ratio (INR) > 1.5, bilirubin ≥ 2 mg/dL, albumin ≤ 3.5 g/dL, anemia, alcohol abuse, antiplatelet therapy, chronic kidney disease, dementia, proton pump inhibitor prescription, and recent infection.</p><p><strong>Conclusions: </strong>In this study of almost 15,000 veterans, risk factors for non-variceal bleeding within the first year after diagnosis of CLD included non-Caucasian race, laboratory parameters indicating severe liver disease and recent infection in addition to the risk factors for bleeding observed in a general non-CLD population.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Steady-State Versus Chemotherapy-Based Stem Cell Mobilization in Multiple Myeloma: A Single-Center Study to Analyze Efficacy and Safety.","authors":"Nora Obajed Al-Ali, Laszlo Imre Pinczes, Katalin Farkas, Gyorgy Kerekes, Arpad Illes, Laszlo Varoczy","doi":"10.14740/jh1256","DOIUrl":"10.14740/jh1256","url":null,"abstract":"<p><strong>Background: </strong>High-dose chemotherapy followed by autologous hematopoietic stem cell support is recommended in the treatment of eligible multiple myeloma (MM) patients. The aim of this study was to compare the efficacy and safety of steady-state versus chemotherapy-based stem cell mobilization in our Hungarian patient population.</p><p><strong>Methods: </strong>The subjects were 210 MM patients who underwent stem cell mobilization procedure between 2018 and 2022. Solo granulocyte colony-stimulating factor (G-CSF) was administered in 104 cases, while 106 patients received chemotherapy which was followed by G-CSF administration. We evaluated the ratio of successful mobilizations, the amount of collected stem cells, the incidence of infections and cost-effectivity in the two groups.</p><p><strong>Results: </strong>In the steady-state group, there was a significantly higher need for plerixafor (45% vs. 13%, P < 0.001), unsuccessful stem cell mobilization was more frequent (11% vs. 3%, P = 0.024) and the mean amount of collected stem cells was lower (6.9 vs. 9.8 × 10⁶, P < 0.001) than in the chemotherapy group. However, infections were less frequent (4% vs. 27%, P < 0.001) and the number of days spent in hospital was significantly lower (6 vs. 14 days, P < 0.001). Plerixafor was more frequently administered in those who had received lenalidomide or daratumumab than in those who had been treated with other regimens (41% vs. 23%, P = 0.007 and 78% vs. 23%, P < 0.001, respectively).</p><p><strong>Conclusions: </strong>Steady-state mobilization is a safe method; however, the higher rate of plerixafor administration and unsuccessful attempts may question its superiority to chemomobilization.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}