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Epitope analysis aids in identification of donor-specific antibody against HLA-DP29 during virtual crossmatch. 表位分析有助于在虚拟交叉配型中鉴定针对HLA-DP29的供体特异性抗体。
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmag038
Minghui Li
{"title":"Epitope analysis aids in identification of donor-specific antibody against HLA-DP29 during virtual crossmatch.","authors":"Minghui Li","doi":"10.1093/labmed/lmag038","DOIUrl":"10.1093/labmed/lmag038","url":null,"abstract":"<p><strong>Introduction: </strong>The use of virtual crossmatch for HLA antigen compatibility assessment before transplantation has become common practice in transplantation medicine. The accuracy of virtual crossmatch relies on accurate and complete donor HLA antigen typing and up-to-date patient HLA antigen antibody characterization. Here, we report a case in which anti-HLA-DP antibodies were detected in the patient, and the donor HLA-DPB1*29:01 was not included in the bead panel of Luminex-based single antigen bead assay (LSA).</p><p><strong>Methods: </strong>The deceased donor HLA antigen typing results were downloaded from the United Network for Organ Sharing. Serum samples were tested for HLA antibodies using LSA. Epitope analysis was performed manually based on alignment of HLA-DP using the Sequence Alignment Tool from the IPD-IMGT/HLA database (https://www.ebi.ac.uk/ipd/imgt/hla/).</p><p><strong>Results: </strong>The LSA showed that anti-HLA-DP3, DP6, DP9, DP11, DP14, DP15, DP17, and DP20 were positive. HLA antigen typing with real-time polymerase chain reaction showed that the donor carried HLA-DPB1*29:01. Epitope analysis showed that the anti-HLA-DPB1*29:01 donor-specific antibody was present in this patient.</p><p><strong>Discussion: </strong>The LSA can miss antibodies against HLA antigens not represented by the beads, leading to false-negative results for donor-specific antibodies. Failure to consider the possibility of unrepresented HLA proteins may potentially lead to incorrect clinical decision. Epitope analysis may help predict reactivity to HLA antigens not present on LSA beads.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148297241","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}
引用次数: 0
When hemolysis overwhelms the liver: warm autoimmune hemolytic anemia complicated by secondary cholestasis and pigment choledocholithiasis. 当溶血淹没肝脏:温热自身免疫性溶血性贫血并发继发性胆汁淤积和色素胆总管结石。
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmag040
Happy Xiong, Alex Tannenbaum, Caitlin Raymond
{"title":"When hemolysis overwhelms the liver: warm autoimmune hemolytic anemia complicated by secondary cholestasis and pigment choledocholithiasis.","authors":"Happy Xiong, Alex Tannenbaum, Caitlin Raymond","doi":"10.1093/labmed/lmag040","DOIUrl":"https://doi.org/10.1093/labmed/lmag040","url":null,"abstract":"<p><strong>Introduction: </strong>Hemolysis is a physiologic condition that results from the lysis of red blood cells and the release of their contents into the plasma. This condition may occur in the setting of a genetic, infectious, mechanical, or immune-mediated process. Classically, hemolysis results in a primarily indirect hyperbilirubinemia as free hemoglobin is metabolized to bilirubin, which is then conjugated and excreted; however, in rare instances, severe and chronic hemolysis may saturate the biliary excretion system and result in a direct hyperbilirubinemia.</p><p><strong>Methods: </strong>In this report, we present a 73-year-old man who presented with severe jaundice and was found to have warm autoimmune hemolytic anemia.</p><p><strong>Results: </strong>The patient's total bilirubin level was 72.4 mg/dL, with a direct bilirubin level of 43.6 mg/dL and elevated liver enzymes. Imaging was consistent with an obstructive process, and hilar thickening on magnetic resonance cholangiopancreatography raised concern for a superimposed cholangiocarcinoma. Endoscopic retrograde cholangiopancreatography, however, removed several black pigment stones, known to be associated with chronic hemolysis, and cytology brushings were negative for malignancy.</p><p><strong>Discussion: </strong>This case is an excellent illustration of how sustained extravascular hemolysis can overwhelm hepatic excretory capacity and produce secondary cholestasis that mimics malignancy.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148474942","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}
引用次数: 0
The masquerade of motives: the immunophenotypic ambiguity in acute leukemias of ambiguous lineage, not otherwise specified. 动机的伪装:不明确谱系的急性白血病的免疫表型不明确。
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmag039
Zeinab Khalil, Luis Quistian, Dana Collins, Yuri Fedoriw, Danielle L V Maracaja
{"title":"The masquerade of motives: the immunophenotypic ambiguity in acute leukemias of ambiguous lineage, not otherwise specified.","authors":"Zeinab Khalil, Luis Quistian, Dana Collins, Yuri Fedoriw, Danielle L V Maracaja","doi":"10.1093/labmed/lmag039","DOIUrl":"https://doi.org/10.1093/labmed/lmag039","url":null,"abstract":"<p><strong>Introduction: </strong>Acute leukemias of ambiguous lineage, not otherwise specified (ALAL, NOS), represent a rare but clinically significant subset of leukemias characterized by immunophenotypic heterogeneity and an absence of lineage-defining markers.</p><p><strong>Methods: </strong>We report a diagnostically challenging case of ALAL, NOS, in a 59-year-old man who presented with constitutional symptoms and was found to have marked leukocytosis, anemia, thrombocytopenia, and 96% circulating blasts.</p><p><strong>Results: </strong>Flow cytometry revealed expression of progenitor markers (CD34, HLA-DR, terminal deoxynucleotidyl transferase) with weak and variable expression of B-cell (CD19, CD22), T-cell (CD5, CD7), and myeloid (CD13, CD33) markers. Immunohistochemistry confirmed CD79a expression but lacked the lineage-defining markers myeloperoxidase, CD3, strong CD19, and PAX5.</p><p><strong>Results: </strong>Cytogenetic and molecular testing revealed a constitutional Robertsonian 13;14 translocation and SH2B3 mutations without diagnostic alterations characteristic of acute myeloid leukemia or acute lymphoblastic lymphoma. The case met diagnostic criteria for ALAL, NOS, per the 2022 International Consensus Classification and World Health Organization 5th edition classifications. Treatment was initiated with hyperfractionated cyclophosphamide, vincristine, adriamycin, and dexamethasone chemotherapy, and the patient ultimately achieved minimal residual disease negativity. The patient subsequently underwent allogeneic stem cell transplantation approximately 7 months after diagnosis.</p><p><strong>Discussion: </strong>This case underscores the diagnostic challenges and therapeutic considerations in managing ALAL, NOS.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581938","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}
引用次数: 0
ABO discrepancies revealing rare weak A subgroups: a 2-case series. ABO差异揭示罕见的弱A亚群:2例系列。
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmag043
Ande Marchini, Chinelo Onyenekwu, Patricia Ruegsegger, Christine Fuja, William Rose, Caitlin Raymond
{"title":"ABO discrepancies revealing rare weak A subgroups: a 2-case series.","authors":"Ande Marchini, Chinelo Onyenekwu, Patricia Ruegsegger, Christine Fuja, William Rose, Caitlin Raymond","doi":"10.1093/labmed/lmag043","DOIUrl":"10.1093/labmed/lmag043","url":null,"abstract":"<p><strong>Introduction: </strong>ABO discrepancies caused by weak A subgroups are uncommon but clinically important because they can lead to mistyping and inappropriate transfusion management.</p><p><strong>Methods: </strong>We present the cases of 2 patients at an academic medical center who were historically typed as group O but were found to harbor weak A subgroups upon detailed investigation.</p><p><strong>Results: </strong>In case 1, the patient's red blood cells demonstrated weak reactivity with anti-A reagent on forward typing, with anti-A1 and anti-B identified on reverse typing. In case 2, the patient's red blood cells were nonreactive with anti-A reagent on forward typing but did agglutinate with anti-A,B reagent. Reverse typing showed weak reactivity against A1 and A2 cells, with strong reactivity against B cells, consistent with an anti-A antibody. In both cases, molecular genotyping performed at a reference laboratory returned results consistent with an Aw or Ael allele.</p><p><strong>Discussion: </strong>These cases illustrate the serologic spectrum of weak A phenotypes, highlight the variable sensitivity of ABO reagents in detecting minimal antigen expression, and underscore the possible utility of molecular characterization when serologic results are ambiguous.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148595121","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}
引用次数: 0
Using blood cell histogram analysis for swift anemia diagnosis alongside complete blood cell count and peripheral blood film. 利用血细胞直方图分析,结合全血细胞计数和外周血膜快速诊断贫血。
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmaf064
Atefeh Bahmei, Hadis Soleimanzadeh, Zahra Zare-Badie, Habib Ala Golfeshan, Gholamhossein Tamaddon
{"title":"Using blood cell histogram analysis for swift anemia diagnosis alongside complete blood cell count and peripheral blood film.","authors":"Atefeh Bahmei, Hadis Soleimanzadeh, Zahra Zare-Badie, Habib Ala Golfeshan, Gholamhossein Tamaddon","doi":"10.1093/labmed/lmaf064","DOIUrl":"https://doi.org/10.1093/labmed/lmaf064","url":null,"abstract":"<p><strong>Introduction: </strong>Histograms are graphical representations of blood cell populations and offer valuable insights into clinical diagnostics. They play a crucial role in verifying differential cell counts, ensuring quality control, detecting uncommon disease processes, and assessing sample integrity. Abnormalities in histograms and related complete blood cell count (CBC) parameters have been observed in various hematological conditions. These abnormalities can manifest as shifts in cell populations, changes in the size and shape of cells, or the presence of atypical cell types.</p><p><strong>Methods: </strong>Understanding the potential changes and flags that can occur in CBCs is essential for accurate diagnosis and patient management.</p><p><strong>Results: </strong>Interpreting the derived histogram pattern and combining it with other CBC parameters and peripheral blood film analysis can enhance the evaluation process, leading to more precise and timely clinical decisions.</p><p><strong>Discussion: </strong>This comprehensive article discusses different types of anemia and reviews the associated changes in CBC parameters, histogram patterns, and blood film characteristics. By studying this review, readers will gain the ability to correlate CBC histograms and parameters with microscopic findings, enabling them to interpret and diagnose various anemias with confidence.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148280565","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}
引用次数: 0
Variable performance of 5 detection methods for identifying intravenous fluid contamination in basic metabolic panels at an academic medical center. 某学术医疗中心基础代谢组静脉输液污染5种检测方法的不同表现
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmag034
Jianbo Yang, Lei Wang, Gangqing Hu, Danyel H Tacker
{"title":"Variable performance of 5 detection methods for identifying intravenous fluid contamination in basic metabolic panels at an academic medical center.","authors":"Jianbo Yang, Lei Wang, Gangqing Hu, Danyel H Tacker","doi":"10.1093/labmed/lmag034","DOIUrl":"10.1093/labmed/lmag034","url":null,"abstract":"<p><strong>Introduction: </strong>This study evaluated 5 methods for identifying intravenous fluid contamination in basic metabolic panel specimens.</p><p><strong>Methods: </strong>Results for blood urea nitrogen, calcium, chloride, carbon dioxide, creatinine, glucose, potassium, and sodium were retrieved from metabolic panels tested in August 2025. All 5 methods were applied to 11 862 result sets with both preceding and subsequent results available within 48 hours. Chart review was conducted for all flagged specimens.</p><p><strong>Results: </strong>The 5 methods collectively flagged 333 specimens, including 94 confirmed contaminations and 239 reflecting pathophysiologic changes or treatment effects. Alert rates ranged from 0.16% to 1.62%, and positive predictive values ranged from 23% to 100%. Among the 94 contaminated specimens, contaminants included 63 saline, 11 dextrose, 4 potassium, 5 PlasmaLyte A (Baxter) or lactated Ringer's solution, and 11 other fluids. The methods showed differing sensitivities across contaminant types. False alerts were associated with diverse clinical conditions or therapeutic interventions, including kidney impairment, diabetes, hypokalemia, substantial infusion volumes, and recent calcium injections. The methods differed in the likelihood of false alerts.</p><p><strong>Discussion: </strong>All 5 methods showed low alert rates with variable positive predictive values. Their performance is influenced by patient population characteristics. Local verification is essential before adopting externally developed methods for detecting specimen contaminations.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148229863","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}
引用次数: 0
Basophil activation test in the assessment of cephalosporin allergy: a case report. 嗜碱性粒细胞活化试验评价头孢菌素过敏1例。
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmag033
Rania Mzoughi, Baraa Ben Houria, Mahmoud Hchaf, Aymen Tazeghdanti, Mouna Ben Azaiz, Radhia Kochkar, Ezzedine Ghazouani
{"title":"Basophil activation test in the assessment of cephalosporin allergy: a case report.","authors":"Rania Mzoughi, Baraa Ben Houria, Mahmoud Hchaf, Aymen Tazeghdanti, Mouna Ben Azaiz, Radhia Kochkar, Ezzedine Ghazouani","doi":"10.1093/labmed/lmag033","DOIUrl":"10.1093/labmed/lmag033","url":null,"abstract":"<p><strong>Introduction: </strong>Third-generation cephalosporins, including cefotaxime and cefixime, are among the most frequently prescribed antibiotics for the management of a broad range of infections. Although generally considered safe, hypersensitivity reactions may occasionally occur.</p><p><strong>Methods: </strong>A 33-year-old woman was admitted to the plastic surgery department for the management of an open hand fracture following a road traffic accident. On admission, she underwent emergency surgery. After the administration of cefotaxime, she developed a generalized rash associated with pruritus. The antibiotic was discontinued and replaced with cefixime. The patient developed the same allergic reaction shortly after its administration.</p><p><strong>Results: </strong>The treatment was stopped, and the patient's symptoms resolved completely in a few days. Causality assessment was further supported by a basophil activation test, which showed a positive result, confirming an immunoglobulin E-mediated (type I) hypersensitivity reaction to cephalosporins.</p><p><strong>Discussion: </strong>Although the basophil activation test provided supportive evidence in this case, its results should be interpreted with caution due to interlaboratory variability and inherent limitations. The basophil activation test can serve as a complementary tool alongside clinical assessment and other diagnostic methods in suspected drug hypersensitivity.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148213917","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}
引用次数: 0
Renal magnesium wasting and functional hypoparathyroidism: a diagnostic and therapeutic challenge in hypocalcemia. 肾镁浪费和功能性甲状旁腺功能低下:低钙血症的诊断和治疗挑战。
IF 1
Laboratory medicine Pub Date : 2026-06-10 DOI: 10.1093/labmed/lmag035
Amnon Schlegel
{"title":"Renal magnesium wasting and functional hypoparathyroidism: a diagnostic and therapeutic challenge in hypocalcemia.","authors":"Amnon Schlegel","doi":"10.1093/labmed/lmag035","DOIUrl":"https://doi.org/10.1093/labmed/lmag035","url":null,"abstract":"<p><strong>Introduction: </strong>Symptomatic hypocalcemia and hypomagnesemia are life-threatening emergencies. Acute diagnostic and therapeutic maneuvers are well known, but underlying etiologies and the long-term therapeutic choices are not.</p><p><strong>Methods: </strong>A 38-year-old woman who was found to have metastatic malignant melanoma during post-iodide 131 treatment uptake and whole-body scanning for treatment of differentiated thyroid cancer presented to an emergency department after the third round of platinum-based chemotherapy with severe muscle cramping. She was found to have profound hypocalcemia that was treated. The next day, her symptoms returned, and severe hypomagnesemia was found in a visit with her oncologist.</p><p><strong>Results: </strong>Blood and urine tests revealed severe renal magnesium wasting and inappropriately normal intact parathyroid hormone given her severe hypocalcemia. All electrolyte abnormalities resolved with intravenous magnesium administration over 2 days.</p><p><strong>Discussion: </strong>Severe renal magnesium wasting can cause concurrent functional hypoparathyroidism. Recognition of concurrent hypomagnesemia is essential in the laboratory workup of hypocalcemia.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148254928","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}
引用次数: 0
Hidden potential, visible impact: mentorship through the American Society for Clinical Pathology Mentorship Program in advancing research in low- and middle-income countries. 潜在的潜力,可见的影响:通过美国临床病理学会指导计划在低收入和中等收入国家推进研究的指导。
IF 1
Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag029
Michal Ordak, Nesrin Nigussie
{"title":"Hidden potential, visible impact: mentorship through the American Society for Clinical Pathology Mentorship Program in advancing research in low- and middle-income countries.","authors":"Michal Ordak, Nesrin Nigussie","doi":"10.1093/labmed/lmag029","DOIUrl":"https://doi.org/10.1093/labmed/lmag029","url":null,"abstract":"","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147978263","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}
引用次数: 0
Diagnostic challenges and the importance of genetic testing in α/β-thalassemia: a case report. α/β-地中海贫血的诊断挑战和基因检测的重要性:一个病例报告。
IF 1
Laboratory medicine Pub Date : 2026-04-03 DOI: 10.1093/labmed/lmag012
Samia Hoque, Mohammed Mejbahuddin Mia, Md Imrul Kaes, Abul Basar Mohammad Kamrul Hasan, Sheikh Anisul Haque
{"title":"Diagnostic challenges and the importance of genetic testing in α/β-thalassemia: a case report.","authors":"Samia Hoque, Mohammed Mejbahuddin Mia, Md Imrul Kaes, Abul Basar Mohammad Kamrul Hasan, Sheikh Anisul Haque","doi":"10.1093/labmed/lmag012","DOIUrl":"10.1093/labmed/lmag012","url":null,"abstract":"<p><strong>Introduction: </strong>Co-inheritance of α- and β-thalassemia presents major diagnostic challenges, particularly in infancy, when standard hematologic parameters are often misleading. Reliance on routine hemoglobin analysis alone may therefore lead to delayed or missed diagnosis.</p><p><strong>Methods: </strong>We report a case of a 4-month-old female infant who presented with severe transfusion-dependent anemia, pallor, lethargy, and hepatosplenomegaly. Comprehensive laboratory evaluation included peripheral blood film, hemolysis workup, hemoglobin capillary electrophoresis, and molecular genetic testing using multiplex polymerase chain reaction and reverse hybridization.</p><p><strong>Results: </strong>Initial investigations revealed normocytic normochromic anemia with hemolytic features. Capillary electrophoresis showed normal adult hemoglobin A2 and mildly elevated fetal hemoglobin, insufficient to explain the clinical severity. Molecular analysis identified a heterozygous ‒α4.2 deletion and a heterozygous IVSI-5(G>C) mutation, confirming compound heterozygous α/β-thalassemia.</p><p><strong>Discussion: </strong>This case illustrates how age-related hemoglobin expression and the masking effect of α-thalassemia can render capillary electrophoresis nondiagnostic in infants with β-thalassemia. Genetic testing provided definitive diagnosis and underscores its critical role in diagnosing infants with unexplained or disproportionate anemia. Early molecular confirmation enables accurate diagnosis, appropriate counseling, and optimized clinical management.</p>","PeriodicalId":94124,"journal":{"name":"Laboratory medicine","volume":"57 3","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679828","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}
引用次数: 0
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