Case Reports in Hematology最新文献

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Zanubrutinib, a New Bullet Against Chronic Lymphocytic Leukemia Even When Localized in Central Nervous System. Zanubrutinib,一种治疗慢性淋巴细胞白血病的新药物,即使局限于中枢神经系统。
IF 0.7
Case Reports in Hematology Pub Date : 2026-08-17 eCollection Date: 2026-01-01 DOI: 10.1155/crh/4126471
Maria D'Amato, Claudia Baratè, Giulia Cervetti, Mariacostanza Caparello, Valerio Ortenzi, Antonio Giuseppe Naccarato, Edoardo Benedetti, Sara Galimberti
{"title":"Zanubrutinib, a New Bullet Against Chronic Lymphocytic Leukemia Even When Localized in Central Nervous System.","authors":"Maria D'Amato, Claudia Baratè, Giulia Cervetti, Mariacostanza Caparello, Valerio Ortenzi, Antonio Giuseppe Naccarato, Edoardo Benedetti, Sara Galimberti","doi":"10.1155/crh/4126471","DOIUrl":"10.1155/crh/4126471","url":null,"abstract":"<p><strong>Introduction: </strong>Central nervous system (CNS) and extralymphatic involvement in chronic lymphocytic leukemia (CLL) is rare and associated with poor prognosis.</p><p><strong>Case description: </strong>We report the case of a 45-year-old woman with refractory CLL who developed CNS and extralymphatic lesions after three prior lines of therapy, including rituximab-bendamustine, rituximab-idelalisib, and rituximab-venetoclax. Third-line treatment with rituximab-venetoclax led to partial remission (PR), followed by a 2-month treatment-free interval before the emergence of a new lesion. Treatment with zanubrutinib, a second-generation Bruton's tyrosine kinase inhibitor (BTKi), was initiated, resulting in significant clinical improvement and near-complete resolution of lesions.</p><p><strong>Discussion: </strong>Zanubrutinib's enhanced blood-brain barrier (BBB) penetration and favorable safety profile make it a promising option for CNS-CLL and also for other extralymphatic lesions.</p><p><strong>Conclusion: </strong>This case underscores the potential of zanubrutinib in addressing challenging CLL presentations.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"4126471"},"PeriodicalIF":0.7,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13479106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799303","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
Myelodysplasia From Valproic Acid Resolved by Cessation. 丙戊酸引起的骨髓增生通过停止治疗得到缓解。
IF 0.7
Case Reports in Hematology Pub Date : 2026-08-13 eCollection Date: 2026-01-01 DOI: 10.1155/crh/5588671
Chidiebube Ugwu, Angimar Uriepero Palma, Rekha Bhat, Alankrita Taneja
{"title":"Myelodysplasia From Valproic Acid Resolved by Cessation.","authors":"Chidiebube Ugwu, Angimar Uriepero Palma, Rekha Bhat, Alankrita Taneja","doi":"10.1155/crh/5588671","DOIUrl":"10.1155/crh/5588671","url":null,"abstract":"<p><p>Myelodysplastic neoplasms (MDS) are clonal blood disorders that cause ineffective hematopoiesis, low blood counts, and a risk of progression to acute myeloid leukemia. Chemotherapy and radiation usually drive these changes, but a small set of medications, including valproic acid (VPA), can also produce reversible myelodysplastic features. We report a case of VPA-induced myelodysplasia in a middle-aged woman with complex neurologic and psychiatric comorbidities. The patient, with a history of paraplegia secondary to traumatic brain injury and epilepsy, was referred for evaluation of pancytopenia and significant weight loss. She had been treated with VPA for seizure prophylaxis for over a year, with dose escalation to 1000 mg three times daily occurring approximately 3 months prior to presentation. Laboratory evaluation revealed pancytopenia. Peripheral smear showed pseudo-Pelger-Huët cells and thrombocytopenia. Bone marrow biopsy demonstrated mild hypocellularity, erythroid hyperplasia, and dysplasia in the megakaryocytic lineage, but cytogenetic and molecular studies were negative for MDS-associated mutations. We promptly stopped VPA and switched her to lacosamide. Supportive care included a PEG tube for nutrition and one packed red cell transfusion for procedure-related anemia. Her blood counts improved within a week of stopping VPA and normalized completely over the following weeks, with no further cytopenia. This case shows why clinicians should recognize drug-induced myelodysplasia as a reversible mimic of primary MDS. VPA's known hematologic toxicity may stem from its histone deacetylase (HDAC) inhibitor activity, which disrupts normal hematopoiesis. Clinicians should consider VPA-induced myelodysplasia in patients on long-term therapy who present with unexplained cytopenias. Stopping the drug early can produce full hematologic recovery and prevent unnecessary interventions.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"5588671"},"PeriodicalIF":0.7,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13473839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148763298","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
KCTD5::PDGFRB Fusion Gene Leading to Clonal Hypereosinophilia With Cardiac Involvement in a Young Adult: A Case Report. KCTD5::PDGFRB融合基因导致克隆性嗜酸性粒细胞增多症并累及心脏:一例报告
IF 0.7
Case Reports in Hematology Pub Date : 2026-08-13 eCollection Date: 2026-01-01 DOI: 10.1155/crh/6882482
Léona de Groote, Daphné Papazoglou, Jade Ku, Pierre Heimann, Laurent Dewispelaere, Pierre Sidon, Florence Roufosse, Anne-Laure Trépant, Nicolas Cilla
{"title":"<i>KCTD5::PDGFRB</i> Fusion Gene Leading to Clonal Hypereosinophilia With Cardiac Involvement in a Young Adult: A Case Report.","authors":"Léona de Groote, Daphné Papazoglou, Jade Ku, Pierre Heimann, Laurent Dewispelaere, Pierre Sidon, Florence Roufosse, Anne-Laure Trépant, Nicolas Cilla","doi":"10.1155/crh/6882482","DOIUrl":"10.1155/crh/6882482","url":null,"abstract":"<p><p>Hypereosinophilia may be the presenting feature of various conditions, including myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-eo-TK). We report the case of a 22-year-old male presenting with chest pain and severe cardiac involvement in the setting of marked hypereosinophilia. Laboratory findings revealed marked leukocytosis with hypereosinophilia, mild anemia, elevated NT-proBNP, impaired renal function, and elevated vitamin B12 levels. Imaging showed cardiomegaly and severe mitral regurgitation. Eosinophilia persisted despite corticosteroid and antiparasitic therapy. Bone marrow analysis revealed hypercellularity with eosinophilia, and karyotyping identified a t(5, 16) chromosomal translocation. RNA sequencing revealed a novel <i>KCTD5::PDGFRB</i> fusion transcript, establishing the diagnosis of MLN-eo-TK with cardiac involvement. Imatinib (400 mg daily) induced complete hematological remission within 24 hours; however, severe mitral regurgitation persisted, requiring valve replacement. To our knowledge, this is the first reported case of MLN-eo-TK associated with a <i>KCTD5::PDGFRB</i> fusion. This case highlights the importance of comprehensive cytogenetic and molecular testing in unexplained hypereosinophilia, particularly in corticosteroid-refractory patients, and demonstrates a rapid and marked response to imatinib.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"6882482"},"PeriodicalIF":0.7,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13473838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760693","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
Rare Case of ALK-Positive Large B-Cell Lymphoma in a Young Adult: Diagnostic and Therapeutic Challenges. 罕见alk阳性大b细胞淋巴瘤一例年轻成人:诊断和治疗的挑战。
IF 0.7
Case Reports in Hematology Pub Date : 2026-08-12 eCollection Date: 2026-01-01 DOI: 10.1155/crh/8134782
Tara Menon, Ian Muir, Anthony Emanuel, Donald Vile
{"title":"Rare Case of ALK-Positive Large B-Cell Lymphoma in a Young Adult: Diagnostic and Therapeutic Challenges.","authors":"Tara Menon, Ian Muir, Anthony Emanuel, Donald Vile","doi":"10.1155/crh/8134782","DOIUrl":"10.1155/crh/8134782","url":null,"abstract":"<p><p>We report a rare case of ALK-positive large B-cell lymphoma (ALK + LBCL) in a previously healthy 20-year-old male, who presented with two weeks of worsening diffuse abdominal pain and weight loss, and was subsequently found to have extensive mesenteric and retroperitoneal lymphadenopathy. Biopsies confirmed the diagnosis of Stage II bulky ALK + LBCL, supported by characteristic immunohistochemical findings including granular cytoplasmic ALK staining and the absence of CD20 expression. Due to the rarity of this aggressive disease, treatment options remain uncertain, and a multidisciplinary consensus for management was required. The patient was treated with dose-adjusted EPOCH chemotherapy, with rituximab added in subsequent cycles despite predominant CD20 negativity. Interim PET/CT scans demonstrated a favorable metabolic response, spotlighting the diagnostic and therapeutic challenges in managing this rare and poorly understood lymphoma subtype.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"8134782"},"PeriodicalIF":0.7,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13469172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148764075","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
Epstein-Barr Virus-Positive B-Cell Lymphoproliferative Disorder Complicated by Septic Shock in Activated PI3Kδ Syndrome: A Pediatric Case Report and Literature Review. Epstein-Barr病毒阳性b细胞淋巴增生性疾病并发感染性休克的活化PI3Kδ综合征:一个儿科病例报告和文献复习
IF 0.7
Case Reports in Hematology Pub Date : 2026-08-11 eCollection Date: 2026-01-01 DOI: 10.1155/crh/3644513
Xumeng Zhao, Xi Ming, Zhen Shang, Mi Zhou, Yi Xiao
{"title":"Epstein-Barr Virus-Positive B-Cell Lymphoproliferative Disorder Complicated by Septic Shock in Activated PI3Kδ Syndrome: A Pediatric Case Report and Literature Review.","authors":"Xumeng Zhao, Xi Ming, Zhen Shang, Mi Zhou, Yi Xiao","doi":"10.1155/crh/3644513","DOIUrl":"10.1155/crh/3644513","url":null,"abstract":"<p><p>Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare inborn error of immunity caused by gain-of-function variants in <i>PIK3CD</i> and characterized by recurrent infections, lymphoproliferation, and impaired viral control. We report a 17-year-old male with a heterozygous <i>PIK3CD</i> c.3061G > A (p.E1021K) variant who presented with progressive edema, extensive hypermetabolic lymphadenopathy, splenomegaly, and Epstein-Barr virus (EBV) DNAemia. A core needle biopsy of the right inguinal lymph node demonstrated an immunodeficiency-associated EBV-positive B-cell lymphoproliferative disorder with extensive monotypic plasmacytoid differentiation. Because the biopsy contained limited mature B-cell tissue, the pathological findings favored a polymorphic B-LPD although EBV-positive diffuse large B-cell lymphoma with plasmacytic differentiation could not be excluded. The patient received anti-B-cell-directed therapy and supportive treatment. He was subsequently readmitted with septic shock and acute respiratory distress syndrome. Blood metagenomic next-generation sequencing detected <i>Escherichia coli</i> and <i>Klebsiella pneumoniae</i>, together with antimicrobial-resistance genes including <i>blaNDM</i>. Despite intensive antimicrobial and organ-supportive treatment, the patient remained critically ill and was discharged at his family's request for transfer to a local hospital; his subsequent outcome was unavailable. This case highlights the diagnostic difficulty of classifying EBV-positive B-cell proliferations using limited biopsy tissue in APDS and the competing risks of lymphoproliferative disease and severe infection. Adequate tissue sampling and pathological characterization, close microbiological surveillance, and individualized multidisciplinary management are essential in this setting.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"3644513"},"PeriodicalIF":0.7,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13462656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148724460","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
Treatment of Cold Agglutinin Syndrome Secondary to Chronic Lymphocytic Leukemia With Sutimlimab and Obinutuzumab-Venetoclax. 苏替莫单抗联合奥比妥单抗-维妥乐治疗慢性淋巴细胞白血病继发冷凝集素综合征。
IF 0.7
Case Reports in Hematology Pub Date : 2026-08-07 eCollection Date: 2026-01-01 DOI: 10.1155/crh/9060134
Coen J Lap, Catherine M Broome
{"title":"Treatment of Cold Agglutinin Syndrome Secondary to Chronic Lymphocytic Leukemia With Sutimlimab and Obinutuzumab-Venetoclax.","authors":"Coen J Lap, Catherine M Broome","doi":"10.1155/crh/9060134","DOIUrl":"10.1155/crh/9060134","url":null,"abstract":"<p><p>Cold agglutinin-mediated autoimmune hemolytic anemia (AIHA) is a rare disorder in which IgM autoantibodies lead to complement-dependent hemolysis and cold-induced circulatory symptoms. It is categorized as either cold agglutinin disease (CAD), a primary lymphoproliferative disorder (LPD), or cold agglutinin syndrome (CAS), which occurs secondary to other conditions most commonly infections or lymphoid malignancies. Although the treatment for CAS should be directed toward the underlying condition, the often slower response rates of these treatments, especially in the setting of LPD, could necessitate other strategies for patients with severe hemolytic anemia requiring more rapid control of hemolysis. For patients with CAD, inhibition of the classical complement pathway with the C1s inhibitor sutimlimab has demonstrated significant control of hemolysis, resolution of anemia, and improvement in quality of life. However, little has been published regarding the use of sutimlimab for the treatment of CAS. Here, we describe a patient with CAS secondary to chronic lymphocytic leukemia (CLL) with severe IgM-driven complement-mediated hemolysis who was successfully treated with a combination of sutimlimab and CLL-directed therapy with obinutuzumab-venetoclax. Sutimlimab provided rapid cessation of hemolysis, acting as a bridge while the obinutuzumab-venetoclax addressed the underlying CLL that was presumably responsible for the autoantibody production. This case demonstrates that combining sutimlimab with obinutuzumab-venetoclax is an effective and safe treatment for patients with CAS in the setting of CLL, supporting the use of short-term sutimlimab for CAS as a bridge to more durable treatment for underlying LPD such as CLL.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"9060134"},"PeriodicalIF":0.7,"publicationDate":"2026-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698117","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
Passenger Lymphocyte Syndrome Triggered Hemolytic Anemia Following Orthotopic Liver Transplantation: A Case Report. 原位肝移植后乘客淋巴细胞综合征引发溶血性贫血1例报告。
IF 0.7
Case Reports in Hematology Pub Date : 2026-08-02 eCollection Date: 2026-01-01 DOI: 10.1155/crh/8890213
Teja Sureddi, Mariam Sharobeem, Monica Patel, Vik Bathula
{"title":"Passenger Lymphocyte Syndrome Triggered Hemolytic Anemia Following Orthotopic Liver Transplantation: A Case Report.","authors":"Teja Sureddi, Mariam Sharobeem, Monica Patel, Vik Bathula","doi":"10.1155/crh/8890213","DOIUrl":"10.1155/crh/8890213","url":null,"abstract":"<p><p>Passenger lymphocyte syndrome (PLS) is a rare but recognized cause of immune-mediated hemolytic anemia in solid organ transplant recipients, most often occurring in the setting of minor ABO incompatibility but also described with non-ABO red cell antibodies. We present the case of a 48-year-old male with alcohol-related cirrhosis who developed PLS following orthotopic liver transplantation. His postoperative hospital course was complicated by acute kidney injury, delirium, and severe anemia requiring intensive care unit readmission. Diagnostic workup demonstrated hemolysis with an acute hemoglobin drop, elevated lactate dehydrogenase, indirect hyperbilirubinemia, undetectable haptoglobin, a positive direct antiglobulin test, and anti-B antibodies in the recipient serum. Management included donor-type packed red blood cell transfusions, supportive care, close hemolysis monitoring, and adjustment of immunosuppressive therapy. This case underscores the importance of early recognition of PLS in postliver transplant patients with an acute hemoglobin decline and highlights the need for multidisciplinary coordination among transplant surgery, hematology, and transfusion medicine teams.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"8890213"},"PeriodicalIF":0.7,"publicationDate":"2026-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13429878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148670852","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
Hyperviscosity Syndrome, Hypercalcemia, and Acute Renal Failure as Initial Manifestations of Multiple Myeloma in an Octogenarian. 高黏度综合征、高钙血症和急性肾衰竭是80多岁多发性骨髓瘤的初始表现。
IF 0.7
Case Reports in Hematology Pub Date : 2026-07-29 eCollection Date: 2026-01-01 DOI: 10.1155/crh/1910259
Wen-Chun Yu, Hui-Yun Chiu, Hung-Bin Tsai
{"title":"Hyperviscosity Syndrome, Hypercalcemia, and Acute Renal Failure as Initial Manifestations of Multiple Myeloma in an Octogenarian.","authors":"Wen-Chun Yu, Hui-Yun Chiu, Hung-Bin Tsai","doi":"10.1155/crh/1910259","DOIUrl":"10.1155/crh/1910259","url":null,"abstract":"<p><strong>Background: </strong>Multiple myeloma (MM) is a hematological malignancy characterized by the proliferation of abnormal plasma cells, often accompanied by the excessive secretion of monoclonal immunoglobulins. Hyperviscosity syndrome (HVS) is a rare but life-threatening complication that leads to microcirculatory impairment and organ dysfunction. Additionally, hypercalcemia, commonly associated with osteolytic bone destruction, can further result in acute kidney injury and altered consciousness.</p><p><strong>Case presentation: </strong>We describe an 80-year-old male who presented with confusion, generalized weakness, decreased urine output, and fever. He was subsequently diagnosed with MM complicated by HVS, hypercalcemia, and acute renal failure. Initial investigations revealed severe anemia, significantly elevated IgG levels (8612.26 mg/dL), multiple osteolytic lesions, and deteriorating renal function. The patient also exhibited epistaxis and neurological symptoms. Emergency plasmapheresis was initiated, alongside calcitonin and supportive therapy for hypercalcemia. Bone marrow examination confirmed plasma cell myeloma. Following five sessions of plasmapheresis, immunoglobulin levels decreased significantly, and clinical symptoms improved markedly. The patient was then successfully transitioned to immunomodulatory agents and systemic chemotherapy.</p><p><strong>Conclusion: </strong>MM presenting with HVS and hypercalcemia can be rapidly fatal. Early recognition and immediate intervention with plasmapheresis and supportive care are crucial for improving patient outcomes and facilitating subsequent oncological treatment.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1910259"},"PeriodicalIF":0.7,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13418199/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148621810","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
Haemolytic Anaemia; Beyond Sickle Cell Anaemia: A Case Series of Patients With Paroxysmal Nocturnal Haemoglobinuria in Kenya. 溶血性贫血;超越镰状细胞性贫血:一个病例系列患者与阵发性夜间血红蛋白尿在肯尼亚。
IF 0.7
Case Reports in Hematology Pub Date : 2026-07-29 eCollection Date: 2026-01-01 DOI: 10.1155/crh/1756509
Matilda Ong'ondi, Otom Lavender, Muraya Gathinji, Zaheer Bagha
{"title":"Haemolytic Anaemia; Beyond Sickle Cell Anaemia: A Case Series of Patients With Paroxysmal Nocturnal Haemoglobinuria in Kenya.","authors":"Matilda Ong'ondi, Otom Lavender, Muraya Gathinji, Zaheer Bagha","doi":"10.1155/crh/1756509","DOIUrl":"10.1155/crh/1756509","url":null,"abstract":"<p><p>Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, acquired clonal haematopoietic stem cell disorder characterised by intravascular haemolysis, thrombosis and bone marrow failure. It results from an acquired somatic mutation in the X-linked phosphatidylinositol glycan Class A (PIGA) gene, leading to deficiency of glycosylphosphatidylinositol-anchored complement regulatory proteins, particularly CD55 and CD59, and uncontrolled complement-mediated haemolysis. Although sickle cell disease is the most prevalent haemolytic anaemia in Kenya, other aetiologies need to be considered. We describe a case series of seven patients with PNH confirmed by fluorescent aerolysin reagent (FLAER) flow cytometry. Patients were young, aged 17-38 years (median age of 23 years), with a predominance of males. All presented with recurrent symptomatic anaemia requiring multiple transfusions. One patient had pancytopenia due to very severe aplastic anaemia, while another presented with mesenteric vein thrombosis complicated by bowel ischaemia. All patients had large PNH clones on flow cytometry. Management was largely supportive due to a lack of access to complement inhibitor. These included blood transfusion, folate supplementation, cautious iron replacement and anticoagulation where indicated. One patient underwent successful matched sibling allogeneic stem cell transplant. This series highlights the presence of PNH in Kenya, diagnostic delay and the need for improved access to definitive testing and therapy in resource-limited environments.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1756509"},"PeriodicalIF":0.7,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13417713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148621770","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
Severe Folate Deficiency Mimicking Myelodysplastic Syndrome/Acute Myeloid Leukemia: A Case Report. 严重叶酸缺乏模拟骨髓增生异常综合征/急性髓系白血病1例报告。
IF 0.7
Case Reports in Hematology Pub Date : 2026-07-24 eCollection Date: 2026-01-01 DOI: 10.1155/crh/8212282
Scott Potter, Margaret Williams, Timothy M Hanley
{"title":"Severe Folate Deficiency Mimicking Myelodysplastic Syndrome/Acute Myeloid Leukemia: A Case Report.","authors":"Scott Potter, Margaret Williams, Timothy M Hanley","doi":"10.1155/crh/8212282","DOIUrl":"10.1155/crh/8212282","url":null,"abstract":"<p><p>Folate deficiency is common and often asymptomatic, but severe cases can cause megaloblastic anemia. Rarely, it presents with pancytopenia and bone marrow changes resembling myelodysplastic syndrome/neoplasm (MDS) and/or acute myeloid leukemia (AML), complicating diagnosis and management. We present a case of a patient with severe folate deficiency, in the setting of normal vitamin B12 levels, who presented with hematologic and bone marrow findings initially suggestive of MDS/AML that resolved with folate supplementation. This case highlights that the clinical and morphologic findings associated with severe folate deficiency can closely resemble those of high-risk MDS or MDS/AML. Careful diagnostic evaluation, including nutritional assessment, is essential to avoid the misclassification of reversible nutritional deficiencies as myeloid neoplasms requiring cytotoxic therapy.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"8212282"},"PeriodicalIF":0.7,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13400839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593946","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
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