Hematology Reports最新文献

{"title":"Anemia Due to Unexpected Zinc-Induced Copper Deficiency.","authors":"Nicholas Chun, Shehla Aman, Dan Xu, Jun Wang, Craig Zuppan, Albert Kheradpour","doi":"10.3390/hematolrep17040035","DOIUrl":"https://doi.org/10.3390/hematolrep17040035","url":null,"abstract":"<p><p>Anemia due to acquired copper deficiency is most commonly the result of malabsorption or dietary deficiency. However, it can occasionally be due to excess zinc intake, which impairs the absorption of copper. Copper deficiency may result in vacuolated erythroid and myeloid precursors in the bone marrow, and sometimes features resembling myelodysplasia that, although not specific, may be an important clue to the diagnosis. Background and Clinical Significance: We report bone marrow findings in a child with anemia due to zinc-induced copper deficiency. Case Presentation: An 18-year-old female with cerebral palsy admitted for respiratory failure was found to have anemia and leukopenia with absolute neutropenia. A bone marrow smear showed occasional ring sideroblasts. Additional testing revealed reduced serum copper and elevated serum zinc. Further inquiry uncovered a several-year history of high-dose zinc supplementation. Conclusions: It is important to consider copper deficiency as a potential etiology in patients with anemia and neutropenia, as it may otherwise be mistaken for vitamin B12 deficiency or myelodysplasia. The presence of small vacuoles in hematopoietic precursors is an important clue to the diagnosis and may help avoid ineffective interventions.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychotic Disorder Secondary to Cerebral Venous Thrombosis Caused by Primary Thrombophilia in a Pediatric Patient with Protein S Deficiency and an MTHFR p.Ala222Val Variant: A Case Report.","authors":"Darío Martínez-Pascual, Alejandra Dennise Solis-Mendoza, Jacqueline Calderon-García, Bettina Sommer, Eduardo Calixto, María E Martinez-Enriquez, Arnoldo Aquino-Gálvez, Hector Solis-Chagoyan, Luis M Montaño, Bianca S Romero-Martinez, Ruth Jaimez, Edgar Flores-Soto","doi":"10.3390/hematolrep17040034","DOIUrl":"https://doi.org/10.3390/hematolrep17040034","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Herein, we describe the clinical case of a 17-year-old patient with psychotic disorder secondary to cerebral venous thrombosis due to primary thrombophilia, which was related to protein S deficiency and a heterozygous MTHFR gene mutation with the p.Ala222Val variant. <b>Case presentation:</b> A 17-year-old female, with no history of previous illnesses, was admitted to the emergency service department due to a psychotic break. Psychiatric evaluation detected disorganized thought, euphoria, ideas that were fleeting and loosely associated, psychomotor excitement, and deviant judgment. On the fifth day, an inflammatory process in the parotid gland was detected, pointing out a probable viral meningoencephalitis, prompting antiviral and antimicrobial treatment. One week after antiviral and steroidal anti-inflammatory treatments, the symptoms' improvement was minimal, which led to further neurological workup. MRI venography revealed a filling defect in the transverse sinus, consistent with cerebral venous thrombosis. Consequently, anticoagulation treatment with enoxaparin was initiated. The patient's behavior improved, revealing that the encephalopathic symptoms were secondary to thrombosis of the venous sinus. Hematological studies indicated the cause of the venous sinus thrombosis was a primary thrombophilia caused by a heterozygous MTHFR mutation variant p.Ala222Val and a 35% decrease in plasmatic protein S. <b>Conclusions:</b> This case highlights the possible relationship between psychiatric and thrombotic disorders, suggesting that both the MTHFR mutation and protein S deficiency could lead to psychotic disorders. Early detection of thrombotic risk factors in early-onset psychiatric disorders is essential for the comprehensive management of patients.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Secondary Hemophagocytic Lymphocytosis in Inflammatory Bowel Disease.","authors":"Jacob Boccucci, Ramalakshmi Thulluri, Chandini Kannan, Matthew Gold, Vamsi Kota","doi":"10.3390/hematolrep17040033","DOIUrl":"https://doi.org/10.3390/hematolrep17040033","url":null,"abstract":"<p><p>Background and Clinical Significance: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition that can go underdiagnosed due to overlapping features with severe infections. While the use of thiopurine in inflammatory bowel disease (IBD) has been associated with HLH, the majority of these patients will have a concurrent Epstein-Barr virus (EBV) infection. Case Presentation: This report presents a case of HLH in a patient previously treated with aza-thioprine for IBD without concurrent viral infection.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Solitary Plasmacytomas: Current Status in 2025.","authors":"Uğur Hatipoğlu, Mert Seyhan, Turgay Ulas, Mehmet Sinan Dal, Fevzi Altuntaş","doi":"10.3390/hematolrep17040032","DOIUrl":"https://doi.org/10.3390/hematolrep17040032","url":null,"abstract":"<p><p>Solitary plasmacytoma refers to a neoplastic, clonal proliferation of plasma cells forming a single mass. They are divided based on their origin site; solitary bone plasmacytomas originate from the bones, and extramedullary plasmacytomas represent extraosseous tumors. These are rare tumors but carry a risk of transforming to multiple myeloma; thus, optimal management and meticulous follow-up are needed. Their rarity poses a major challenge in conducting large-scale clinical trials, leaving important gaps in evidence regarding best practices. Newer imaging techniques have improved the quality of staging, management decisions, and outcomes. Radiation still has a significant role in treatment algorithms, and adjuvant chemotherapy is gaining more importance; trials are underway in this area. Follow-up should contain biochemical tests as the proposed response definition criteria. We aimed to review the key studies and guidelines in this paper.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders.","authors":"Amr Hanbali, Abdullah Alamer, Saud Alhayli","doi":"10.3390/hematolrep17040031","DOIUrl":"https://doi.org/10.3390/hematolrep17040031","url":null,"abstract":"<p><p>Rare plasma cell disorders-including IgD, IgE, and IgM multiple myeloma, non-secretory myeloma (NSMM), plasma cell leukemia (PCL), and heavy chain disease (HCD)-are biologically heterogeneous and often present with atypical features and aggressive behavior. This review synthesizes current evidence on their epidemiology, pathophysiology, diagnosis, and treatment. Advances in proteasome inhibitors, immunomodulatory agents, and autologous transplantation have improved outcomes in select subtypes. However, challenges persist in distinguishing IgM myeloma from Waldenström macroglobulinemia, monitoring non-secretory disease, and treating highly aggressive forms such as IgE myeloma and PCL. Standardized diagnostic criteria and prospective trials are essential to guide future management.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ceftriaxone-Induced Pancytopenia: A Case Report.","authors":"Edin Karisik, Zorica Stanojevic-Ristic, Marija Jevtic, Julijana Rasic, Miljana Maric, Milica Popovic","doi":"10.3390/hematolrep17030030","DOIUrl":"10.3390/hematolrep17030030","url":null,"abstract":"<p><p><b>Background:</b> Cephalosporins are considered safe antibiotics. However, serious hematological abnormalities may occur, although rarely, after their therapeutic use. <b>Case Presentation:</b> We present a case of pancytopenia in a 72-year-old female patient treated with ceftriaxone for a urinary tract infection. After five days of therapy, pancytopenia was observed. Other causes were excluded through extensive diagnostic evaluation, including immunological tests, viral serologies, bone marrow aspiration, and peripheral blood smear. The patient's clinical condition significantly improved following the discontinuation of ceftriaxone and the administration of granulocyte colony-stimulating factor (G-CSF). Bone marrow findings revealed hypocellularity without malignant infiltration, and peripheral smear showed no dysplasia, blasts, or hemolysis. <b>Conclusions:</b> This case demonstrates that ceftriaxone, although widely regarded as a safe antibiotic, can induce rare but serious hematologic complications such as pancytopenia. A high index of suspicion is required when patients on antibiotic therapy develop unexplained cytopenias. Detailed medication history, exclusion of other causes, and prompt discontinuation of the suspected drug are essential. The patient's favorable outcome supports the likelihood of an idiosyncratic, immune-mediated mechanism. Future research should explore pharmacogenomic screening in patients at increased risk, particularly involving HLA variants.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 3","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484145","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":"Multi-Organ Adverse Reaction to Two Hypomethylating Agents: A Challenge in High-Risk Myelodysplastic Syndrome Treatment.","authors":"Sofia Brites Alves, Francesca Pierdomenico","doi":"10.3390/hematolrep17030029","DOIUrl":"10.3390/hematolrep17030029","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Intermediate- to high-risk Myelodysplastic Syndrome (MDS), according to the Revised International Prognostic Scoring System (IPSS-M), confers a high risk of progression into acute myeloid leukemia. Treatment with hypomethylating agents, including azacitidine and decitabine, represents the current standard of care. In eligible patients, hypomethylating agents are used as a bridge for allogeneic stem cell transplantation, currently the only curative approach in these malignancies. The most common side effects of hypomethylating agents are myelosuppression, cutaneous injection site reactions (when azacitidine is given subcutaneously), and gastrointestinal symptoms. Uncommon, disabling, and long-lasting side effects represent a threat to effective treatment in this group of patients. <b>Case Presentation</b>: We describe the case of a 49-year-old male patient with IPSS-M intermediate-risk MDS, intended to receive first-line treatment with azacitidine followed by allogeneic stem cell transplantation. The first, late-onset azacitidine reaction was observed 48 h after the first exposure, with cutaneous and respiratory toxicity, followed by the late-onset recurrence of symptoms after azacitidine withdrawal and decitabine introduction. <b>Conclusions</b>: This case highlights atypical, disabling, and long-lasting drug reactions to two hypomethylating agents, with the persistence of hypersensitivity manifestations months after medication withdrawal.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 3","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484146","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":"Management of Refractory Malignancy-Associated Hemophagocytic Lymphohistiocytosis in Adolescent Patients: A Case Series of Novel Therapeutics and Treatment Challenges.","authors":"Meha Krishnareddigari, Kenny Vo, Arun Panigrahi","doi":"10.3390/hematolrep17030028","DOIUrl":"10.3390/hematolrep17030028","url":null,"abstract":"<p><strong>Background: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal syndrome of immune dysregulation with primary (genetic) and secondary (acquired) forms, including malignancy-associated HLH (m-HLH). The condition often presents significant diagnostic and therapeutic challenges due to overlapping symptoms with underlying malignancies and the absence of standardized guidelines for refractory cases. The established standard of care is dexamethasone and etoposide, but no guidelines exist for refractory HLH or cases triggered by malignancy.</p><p><strong>Case presentations: </strong>This case series describes three adolescent patients with m-HLH, focusing on complexities in diagnosis, treatment regimens, and toxicity management. While dexamethasone and etoposide remain a standard of care, their efficacy in refractory cases is limited. We highlight the novel use of targeted therapies, including emapalumab, an interferon-gamma inhibitor, and ruxolitinib, a JAK1/2 inhibitor, which showed potential in modulating immune hyperactivation.</p><p><strong>Conclusions: </strong>Our findings emphasize the need for individualized treatment approaches in adolescent m-HLH and importance of further research to establish evidence-based therapeutic guidelines for refractory cases.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 3","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127318","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":"Racial Inequities Influencing Admission, Disposition and Hospital Outcomes for Sickle Cell Anemia Patients: Insights from the National Inpatient Sample Database.","authors":"Jayalekshmi Jayakumar, Nikhil Vojjala, Manasa Ginjupalli, Fiqe Khan, Meher Ayyazuddin, Davin Turku, Kalaivani Babu, Srinishant Rajarajan, Charmi Bhanushali, Tijin Ann Mathew, Poornima Ramadas, Geeta Krishnamoorty","doi":"10.3390/hematolrep17030027","DOIUrl":"10.3390/hematolrep17030027","url":null,"abstract":"<p><p><b>Background:</b> Sickle cell disease (SCD) significantly impacts diverse racial groups, particularly African American and Hispanic persons, who experience notable disparities in healthcare outcomes. Despite the extensive literature on SCD, studies focusing on in-hospital racial inequities remain limited. <b>Methods:</b> We conducted a retrospective analysis using the National Inpatient Sample (NIS) from 2016 to 2020, identifying adult hospitalizations for SCD (HbSS genotype). Hospitalizations were categorized by race-White, African American, Hispanic, and other, and analyzed for demographic variables, admission types, disposition outcomes, and complications. Statistical analyses included chi-square tests and multivariate logistic regression, adjusting for confounders. <b>Results:</b> Of the 1,089,270 identified hospitalizations, 90.31% were African American. African American and Hispanic patients exhibited significantly higher non-elective admissions compared to Whites (77.81%). In-hospital mortality was highest among Hispanics (0.82%). Multivariate regression analysis revealed that African Americans and others had higher odds of prolonged hospital stays (Adjusted Odds Ratio (AOR): 1.30 and 1.20, respectively). African Americans and Hispanics also had increased risks of in-hospital complications of SCD. <b>Conclusions:</b> This study highlights substantial racial disparities in SCD hospitalizations, with African Americans and Hispanics facing poorer outcomes compared to Whites. Hispanics also demonstrated increased mortality. These findings underscore the need for targeted healthcare interventions to address racial inequities in SCD management and improve outcomes for all affected populations.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 3","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127344","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":"Clinical Outcome and Molecular Profile in Patients with <i>DDX41</i> Mutation Hot-Spots.","authors":"Nadia Toumeh, Yazan Jabban, Ahmad Nanaa, Rong He, David Viswanatha, Dragan Jevremovic, James M Foran, Cecilia Y Arana Yi, Antoine N Saliba, Mehrdad Hefazi Torghabeh, William J Hogan, Mithun V Shah, Abhishek A Mangaonkar, Mrinal M Patnaik, Hassan B Alkhateeb, Aref Al-Kali","doi":"10.3390/hematolrep17030026","DOIUrl":"10.3390/hematolrep17030026","url":null,"abstract":"<p><p><b>Background/Objectives:</b><i>DDX41</i>, DEAD-box RNA helicase 41 gene located on chromosome 5q25.3, is one of the most mutated genes in patients with germline predisposition to myeloid neoplasms. Germline and somatic mutations often have different locations and patterns of mutation, with some hotspots displaying diversity based on ethnicity. We aimed to explore clinical outcomes in patients with various <i>DDX41</i> hot-spot mutations. <b>Methods</b>: This was a retrospective study of patients at Mayo Clinic with <i>DDX41</i> mutation identified through Next Generation Sequencing (NGS) between 2018 and 2024. We completed unadjusted comparisons using continuous or categorical variables, and survival rates were assessed using the Kaplan-Meier method and cox regression analysis. <b>Results</b>: Overall survival appears to be higher in those with p.M1| when compared to p.Asp140GlyFs*2 and p.Arg525His, with comparable survival between p.Arg525His and p.Asp140GlyFs*2. Among males with p.M1| who underwent bone marrow transplant, those who underwent bone marrow transplant appeared to have lower survival rates, although not statistically significant. Our study was limited by a small sample size, therefore limiting our ability to reach significance. <b>Conclusions</b>: Our findings suggest potential implications for clinical outcomes based on <i>DDX41</i> mutation hot-spots.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 3","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127314","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}