Case Reports in Hematology最新文献_第3页

Unveiling Rare Hemoglobinopathies: Hematologic Characterization of Double Heterozygous Hb D and Hb E With Beta-Thalassemia-A Case Report. 揭示罕见的血红蛋白病：双杂合Hb D和Hb E与β -地中海贫血- a病例报告的血液学特征。

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Case Reports in Hematology Pub Date : 2025-07-06 eCollection Date: 2025-01-01 DOI: 10.1155/crh/8375604

Aiman Mahmood Minhas, Hadia Eiman, Javed Iqbal, Ayisha Imran, A S Chughtai

{"title":"Unveiling Rare Hemoglobinopathies: Hematologic Characterization of Double Heterozygous Hb D and Hb E With Beta-Thalassemia-A Case Report.","authors":"Aiman Mahmood Minhas, Hadia Eiman, Javed Iqbal, Ayisha Imran, A S Chughtai","doi":"10.1155/crh/8375604","DOIUrl":"10.1155/crh/8375604","url":null,"abstract":"Background: Hemoglobinopathies are genetic disorders of hemoglobin, with over 700 variants. Common types include beta-thalassemia, Hb S, Hb E, Hb D, and Hb C, and their prevalence is increasing, especially in developing regions of sub-Saharan Africa and Asia. Pakistan, located in the \"thalassemia belt,\" has a high rate of these disorders, with beta-thalassemia being the most common. Genetic combinations, including compound heterozygosity, can lead to unpredictable and severe clinical outcomes. Understanding such rare presentations can aid in more accurate diagnosis, better management strategies, and a deeper insight into the genetic diversity of hemoglobinopathies. It also emphasizes the importance of genetic screening in populations with high hemoglobinopathy prevalence, such as Pakistan, to improve patient outcomes. Case Presentation: A one-year-old girl from consanguineous parents in Multan presented with fatigue, feeding difficulties, and severe growth retardation. She had a history of severe anemia requiring a transfusion at 6 months. Examination revealed pallor and mild hepatosplenomegaly. Hemoglobin analysis showed severe anemia (Hb 5.3 g/dL) and a dimorphic blood picture, with electrophoresis indicating compound heterozygosity for Hb D and Hb E, predominated by Hb D. Her father was a compound heterozygote for Hb E and beta-thalassemia. However, the mother was heterozygous for Hb D. Genetic profiling was not completed due to resource limitations, but the family was counseled on consanguinity risks. Conclusion: Given the rising prevalence of uncommon severe hemoglobinopathies in Pakistan and existing resource limitations, targeted screening in high-risk districts and enhanced patient counseling are essential to mitigate the disease burden and improve diagnostic and management strategies.","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"8375604"},"PeriodicalIF":0.7,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144638307","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}

引用次数: 0

Isolated Central Nervous System Presentation of Early T-Cell Precursor Acute Lymphoblastic Leukemia/Lymphoma: A Rare Case of Exclusive Brain Involvement. 早期t细胞前体急性淋巴母细胞白血病/淋巴瘤的分离中枢神经系统表现：一个罕见的脑部受累病例。

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Case Reports in Hematology Pub Date : 2025-07-03 eCollection Date: 2025-01-01 DOI: 10.1155/crh/7634316

Violet O Swart, Behyar Zoghi

{"title":"Isolated Central Nervous System Presentation of Early T-Cell Precursor Acute Lymphoblastic Leukemia/Lymphoma: A Rare Case of Exclusive Brain Involvement.","authors":"Violet O Swart, Behyar Zoghi","doi":"10.1155/crh/7634316","DOIUrl":"10.1155/crh/7634316","url":null,"abstract":"Early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP-ALL/LBL) is a high-risk and biologically distinct subset of T-cell acute lymphoblastic leukemia, typically characterized by leukemic involvement of bone marrow, peripheral blood, and mediastinal structures. Central nervous system (CNS) involvement is typically a secondary manifestation [1, 2, 3]. We report a rare case of isolated CNS presentation of ETP-ALL/LBL in a 73-year-old woman who presented with progressive neurological symptoms. Imaging revealed a large right frontal extra-axial mass. Systemic evaluation, including peripheral blood flow cytometry and CT imaging of chest, abdomen, and pelvis, showed no evidence ofsystemic disease. Surgical resection and subsequent histopathology confirmed the diagnosis of ETP-ALL/LBL. A bone marrow biopsy was deffered to the patient's preference and rapid clinical deterioration. This case underscores the diagnostic and therapeutic challenges of CNS-restricted leukemic presentations and highlights the need for early recognition and CNS-directed diagnostic evaluation.","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"7634316"},"PeriodicalIF":0.7,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144609874","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}

引用次数: 0

Three Challenges in an Infant: Neuroblastoma Mimicking Infantile Hepatic Hemangioma, With Chylothorax and Rosettes in Pleural Fluid. 婴儿的三个挑战：神经母细胞瘤模拟婴儿肝血管瘤，胸膜液中有乳糜胸和莲座。

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Case Reports in Hematology Pub Date : 2025-07-03 eCollection Date: 2025-01-01 DOI: 10.1155/crh/9948246

Samin Alavi, Mitra Khalili, Maryam Kazemi Aghdam, Alireza Zamani, Tahereh Madani

引用次数: 0

Cytokine Release Syndrome Induced by Pembrolizumab for Metastatic Anal Melanoma. Pembrolizumab治疗转移性肛门黑色素瘤诱导的细胞因子释放综合征。

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Case Reports in Hematology Pub Date : 2025-07-01 eCollection Date: 2025-01-01 DOI: 10.1155/crh/5444075

Erica Martel, Shijia Li, Mayssaa Hoteit, Zubin Bham

引用次数: 0

Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants. 通过补充维生素B6和停用抗抑郁药物成功治疗抗抑郁药物诱导的环状铁母细胞贫血。

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Case Reports in Hematology Pub Date : 2025-07-01 eCollection Date: 2025-01-01 DOI: 10.1155/crh/7046013

Sanshiro Nakao, Chiaki Nakaseko, Chikako Ohwada, Keisuke Kirito, Asuka Shibamiya, Akane Tanaka, Reiko Watanabe, Naomi Shimizu

引用次数: 0

Severe Thrombocytopenia Secondary to Babesiosis: A Case Report. 巴贝斯虫病继发严重血小板减少1例。

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Case Reports in Hematology Pub Date : 2025-07-01 eCollection Date: 2025-01-01 DOI: 10.1155/crh/9918329

Vidyasagar R Cirra, Sharath Kommu, Michael Husak, Christopher Osterbauer

{"title":"Severe Thrombocytopenia Secondary to Babesiosis: A Case Report.","authors":"Vidyasagar R Cirra, Sharath Kommu, Michael Husak, Christopher Osterbauer","doi":"10.1155/crh/9918329","DOIUrl":"10.1155/crh/9918329","url":null,"abstract":"A 76-year-old man with a history of atrial fibrillation treated with warfarin, renal calculi with a history of lithotripsy, hypertension, anxiety, and diabetes mellitus with recent tick exposure presented with abdominal pain, fatigue, nausea, and fever with chills. Workup revealed thrombocytopenia and hemolysis. Due to the likelihood of immune thrombocytopenia (ITP) secondary to a viral etiology, the patient was initially started on steroids. The patient subsequently tested positive for babesiosis on peripheral smear and polymerase chain reaction. A peripheral smear showed giant platelets and was positive for immunoglobulin M platelet antibodies. Other etiologies of thrombocytopenia were excluded. The patient was diagnosed with ITP secondary to babesiosis. Antibiotics were initiated to treat babesiosis. The platelet count was nonresponsive to steroids and gradually improved following intravenous immunoglobulin administration and continued antibiotic treatment. This rare case highlights the importance of considering ITP secondary to babesiosis as the etiology of severe thrombocytopenia in babesiosis, as appropriate recognition and early treatment of babesiosis and ITP can prevent serious complications.","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"9918329"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12237552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592625","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}

引用次数: 0

Life-Threatening Bleeding From Acquired FXI Inhibitors in a Patient With Colorectal Adenocarcinoma. 获得性FXI抑制剂导致结直肠癌患者出血危及生命

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Case Reports in Hematology Pub Date : 2025-06-27 eCollection Date: 2025-01-01 DOI: 10.1155/crh/3821648

Marina Dragičević Jojkić, Amir El Farra, Nebojša Rajić, Ivana Urošević, Aleksandar Savić

{"title":"Life-Threatening Bleeding From Acquired FXI Inhibitors in a Patient With Colorectal Adenocarcinoma.","authors":"Marina Dragičević Jojkić, Amir El Farra, Nebojša Rajić, Ivana Urošević, Aleksandar Savić","doi":"10.1155/crh/3821648","DOIUrl":"10.1155/crh/3821648","url":null,"abstract":"Acquired inhibitors of coagulation factor XI (FXI) are a rare cause of bleeding disorders, typically associated with autoimmune diseases or malignancies. Although uncommon, these inhibitors can lead to severe bleeding, which can be difficult to manage. A limited number of cases have been reported where acquired FXI inhibitors are associated with malignancy. This case report presented a rare occurrence of acquired coagulation FXI inhibitors in a 60-year-old male with sigmoid colon adenocarcinoma. The patient experienced severe postpolypectomy gastrointestinal bleeding and was diagnosed with FXI inhibitors after laboratory tests revealed prolonged activated partial thromboplastin time (aPTT) and reduced activities of factors IX, XI, and XII. The patient underwent surgery, and life-threatening hemorrhagic shock developed. He was reoperated, and treatment with recombinant factor VIIa (rFVIIa), tranexamic acid, and oral corticosteroids was initiated. The therapy successfully controlled the bleeding and resolved the inhibitor. This case highlights the risk of severe bleeding in patients with acquired FXI inhibitors and emphasizes the importance of early diagnosis and personalized treatment. Regular monitoring is essential due to the risk of relapse, particularly in cases associated with malignancy.","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"3821648"},"PeriodicalIF":0.7,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627324","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}

引用次数: 0

MPRIP::PDGFRB Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions. MPRIP: PDGFRB融合基因：成人髓/淋巴肿瘤嗜酸性粒细胞增多和酪氨酸激酶基因融合的罕见病例报告。

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Case Reports in Hematology Pub Date : 2025-06-27 eCollection Date: 2025-01-01 DOI: 10.1155/crh/7098722

Taksin Ukkahad, Tanapun Thamgrang

{"title":"MPRIP::PDGFRB Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions.","authors":"Taksin Ukkahad, Tanapun Thamgrang","doi":"10.1155/crh/7098722","DOIUrl":"10.1155/crh/7098722","url":null,"abstract":"Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent rare hematological malignancies driven by pathological fusion genes involving tyrosine kinase genes. Among these, rearrangements of the PDGFRB gene, particularly the ETV6::PDGFRB rearrangement, are frequently observed as pathogenic mutations. Conversely, instances of the MPRIP::PDGFRB fusion gene are rarely documented. In this case report, we present a 32-year-old previously healthy Thai male who presented to the hospital with constitutional symptoms and marked splenomegaly. His complete blood count revealed mild anemia, marked leukocytosis with hypereosinophilia, and mild thrombocytopenia. A bone marrow study showed hypercellular marrow with granulocytic hyperplasia extensively involved with eosinophils, without morphological evidence of blasts. Conventional cytogenetics identified a t (5; 17) (q33; p13). Further targeted RNA analysis using next-generation sequencing (NGS) detected a fusion gene involving MPRIP::PDGFRB. The patient was diagnosed with myeloid/lymphoid neoplasms with eosinophilia and MPRIP::PDGFRB rearrangement in the chronic-phase disease and was initiated on oral imatinib at a daily dose of 100 mg. One month after initiating the treatment, the patient achieved a hematological response consistent with complete response (CR) criteria. Imatinib therapy has been well-tolerated without reported adverse events, and a 1-year molecular assessment confirmed the achievement of complete molecular response (CMR).","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"7098722"},"PeriodicalIF":0.7,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576610","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}

引用次数: 0

Liver Transplantation for Isolated Langerhans Cell Histiocytosis in an Adult. 成人孤立朗格汉斯细胞组织细胞增多症的肝移植治疗。

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Case Reports in Hematology Pub Date : 2025-06-25 eCollection Date: 2025-01-01 DOI: 10.1155/crh/1179811

Ruiyang Huang

{"title":"Liver Transplantation for Isolated Langerhans Cell Histiocytosis in an Adult.","authors":"Ruiyang Huang","doi":"10.1155/crh/1179811","DOIUrl":"10.1155/crh/1179811","url":null,"abstract":"Langerhans cell histiocytosis (LCH) is a rare disease of proliferation of histiocytic disorder composed of histologically bland Langerhans cells mixed with reactive mononuclear and granulocytic cells, and often accompanied by eosinophils. These cells are characterized by expression of CD1a, S-100 and Langerin proteins. The clinical presentation ranges from indolent to aggressive, depending on the anatomic site involved which can be unifocal, multifocal, unisystemic, or multifocal and multisystemic disease. Cases involving LCH disease and treatment involving the liver are rare, especially in adult patients. Herein, we discuss a case of a 56-year-old male patient who presented with jaundice, acute abdominal pain, and a history of elevated liver function tests assumed to be caused by fatty liver disease. However, a computed tomography (CT) scan revealed a cholangiocarcinoma with associated biliary dilatation and cirrhosis. Pathological examination revealed Langerhans cell involvement. Negative bone marrow biopsy and bone scan indicated that the patient was indeed suffering from unisystemic LCH with isolated liver involvement causing cirrhosis. Patient underwent orthotopic liver transplantation (LT) and has since shown stable liver function without external therapy for 3 years.","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"1179811"},"PeriodicalIF":0.7,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12221540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555231","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}

引用次数: 0

Acute Myeloid Leukemia With NPM1 Mutation Presenting With Rapidly Progressing Hypereosinophilia. 急性髓性白血病伴NPM1突变，表现为快速进展的嗜酸性粒细胞增多症。

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Case Reports in Hematology Pub Date : 2025-06-18 eCollection Date: 2025-01-01 DOI: 10.1155/crh/5125740

S Einarsdottir, G Orrsjö, L von Bahr, A Staffas, L Fogelstrand

引用次数: 0