Journal of hematology最新文献

{"title":"Is There a Correlation Between Immune Thrombocytopenia and Immunoglobulin G4-Related Disease?","authors":"Dorela Lame, Michelangelo Pianelli, Erika Morsia, Attilio Olivieri, Antonella Poloni","doi":"10.14740/jh1260","DOIUrl":"10.14740/jh1260","url":null,"abstract":"<p><p>Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated condition causing organ swelling and fibrosis. Rarely, it coexists with primary immune thrombocytopenia (ITP), characterized by low platelet count (< 100 × 10⁶/L) without an underlying cause. We present a case of a 56-year-old woman diagnosed with ITP in 2005, successfully treated with dexamethasone and intravenous immunoglobulins (IVIG). In 2011, she was diagnosed with IgG4-RD, type I autoimmune pancreatitis, initially treated with steroids then azathioprine with no response. ITP relapses were managed with prednisone/IVIG, rituximab, and thrombopoietin-receptor agonist therapy. Fostamatinib provided temporary relief, but platelet count dropped again in 2023. Combination therapy with small doses of prednisone and mycophenolate showed a partial response, maintaining platelet count over 50 × 10⁶/L. Further investigation is warranted to explore any correlation between these two conditions, especially considering the patient's prolonged response to immunosuppressors.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 4","pages":"174-177"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154318","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":"Optic Disc Infiltration as a Sign of Multiple Myeloma Recurrence.","authors":"Maria Pantelidou, Eleni Dimitriou, Konstantinos Gkontopoulos, Thomas Thomopoulos, Vasiliki Pappa, Sotirios G Papageorgiou, Panagiotis Theodossiadis, Irini Chatziralli","doi":"10.14740/jh1267","DOIUrl":"10.14740/jh1267","url":null,"abstract":"<p><p>Multiple myeloma is a plasma cell dyscrasia with an age-standardized incidence of 3 - 4 per 100,000 in the Caucasian population. It is the second most common hematological malignancy after non-Hodgkin lymphoma, representing 1% of all cancers. Herein, we present a case report of multiple myeloma with ocular involvement as a sign of recurrence. A 62-year-old woman, with a known history of lambda light chain multiple myeloma, presented with reduced visual acuity in both eyes while on maintenance chemotherapy. The patient also had mild unsteadiness and fatigue. Fundus examination revealed bilateral optic disc swelling and hemorrhages of the posterior pole. Magnetic resonance imaging disclosed no abnormalities. Although no biopsy of the optic nerve was possible, intracranial pressure was elevated and cerebrospinal fluid was riddled with neoplastic cells, affirming the diagnosis. After 2 months of chemotherapy, visual function and the appearance of the posterior pole returned to normal. In cases of multiple myeloma, mechanisms, such as hyperviscosity syndrome, microvascular impairment and optic nerve and meningeal infiltration on a cellular level may have played a pivotal role in the ocular involvement, which can be the first sign of recurrence.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 4","pages":"164-167"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142157183","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":"Breast Cancer With Release of Tumor Cells in Peripheral Blood Mimicking Acute Myeloid Leukemia.","authors":"Arianna Gatti, Bruno Brando, Irene Cuppari, Nadia Viola, Lorenzo Brunetti, Michela Sampaolo, Sonia More, Doriana Morichetti, Laura Corvatta","doi":"10.14740/jh1259","DOIUrl":"10.14740/jh1259","url":null,"abstract":"<p><p>A 75-year-old woman with a history of lobular breast adenocarcinoma treated with mastectomy and radiotherapy in 2021 and on maintenance hormone therapy, presented with asthenia and tremors. Laboratory tests showed leucocytosis, anemia and low platelet count, with increased serum calcium, lactate dehydrogenase and indirect bilirubin levels. Haptoglobin was decreased and renal function was normal. Peripheral blood smear showed red cell anisocytosis, many schistocytes and immature granulocytes. Furthermore, 15% of white cells displayed large size and atypical morphology. A macroangiopathic hemolytic anemia (MAHA) related to a <i>de novo</i> or recurring cancer was hypothesized, and total body computed tomography (CT) and ¹⁸F-FDG positron emission tomography (PET)/CT were undertaken. Only a slight FDG uptake was demonstrated in the spine, attributable to a reactive bone marrow due to MAHA. Then, to rule out a MAHA related to acute leukemia, a bone marrow aspirate and trephine biopsy were performed, with an extensive cell immunophenotyping. The first myeloid flow cytometry (FC) panel evidenced a large volume population of about 20%, expressing CD117 but negative for CD45 and CD34. All myeloid markers were negative. A more extensive panel was then used, including plasma cell and erythroid markers. Interestingly, the abnormal population resulted positive for CD138 and CD71 with negativity for CD38. A recent study reported that besides CD45 negativity, non-hematological neoplasms frequently express CD56, CD117, or CD138. Therefore, a panel for non-hematological markers including epithelial cell adhesion molecule (EpCAM) was carried out. This population resulted EpCAM positive and also expressed CD9, a breast cancer prognostic marker. Bone marrow smears revealed the presence of the same cells, and the immunohistochemistry analysis of bone marrow biopsy demonstrated the massive infiltration of breast cancer cells, expressing all epithelial markers identified at diagnosis. The FC analysis of the peripheral blood allowed the rapid characterization of a non-hematological neoplastic cell population, circulating at unusually high frequency and mimicking an acute myeloid leukemia. The FC detection of CD45-negative cell populations in peripheral blood, bone marrow or lymph node aspirate should prompt the setup of an immunophenotyping panel including EpCAM, CD9, CD56 and CD117, to allow for a rapid and accurate identification of ectopic malignant epithelial cells.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 4","pages":"168-173"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154315","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":"Hemophilia and Other Congenital Coagulopathies in Women.","authors":"David Green","doi":"10.14740/jh1298","DOIUrl":"10.14740/jh1298","url":null,"abstract":"<p><p>Deficiencies of factor VIII (FVIII)/von Willebrand factor (VWF) or factor IX (FIX) are underappreciated as potential reasons for heavy menstrual bleeding, recurrent nosebleeds, and easy bruising in girls and women. Bleeding is usually not attributed to hemophilia because clinically significant deficiencies in clotting factors VIII and IX are thought to only affect males. While severe hemophilia is more commonly observed in boys and men, women with mutations in the FVIII or FIX genes (<i>f8</i> or <i>f9)</i> may have widespread bruising and even joint bleeding. They might be heterozygotes with a hemophilic allele on one X chromosome and a normal allele on the other or rarely homozygotes with hemophilic alleles on both X chromosomes. If most or all of an X chromosome is missing (X-chromosome hemizygosity or Turner syndrome) and a hemophilic mutation is present on the other X chromosome, the affected woman will have a severe bleeding tendency. Other inherited disorders that affect women as well as men are von Willebrand disease, combined deficiencies of factor V (FV) and FVIII, and combined deficiencies of the vitamin K-dependent clotting factors. Women as well as men with autoimmune diseases or even those previously well might acquire a severe hemorrhagic disorder due to autoantibodies directed against FVIII, FIX, or VWF. Lastly, easy bruising and mildly decreased FVIII levels are occasionally observed in both men and women with hypothyroidism or panhypopituitarism. The purpose of this brief review is to increase clinician awareness that these bleeding disorders can affect girls and women. An accurate diagnosis and appropriate therapy will greatly benefit patients and their families.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 4","pages":"137-141"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154317","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":"Long-Term Outcome of Eltrombopag With First-Line Immunosuppressive Therapy for Newly Diagnosed Severe Aplastic Anemia.","authors":"Hirofumi Yokota, Kotaro Miyao, Masashi Sawa, Seitaro Terakura, Shingo Kurahashi, Yoshikazu Ikoma, Nobuhiko Imahashi, Takanobu Morishita, Akinao Okamoto, Tomohiro Kajiguchi, Takaaki Ono, Tomoko Narita, Nobuhiro Kanemura, Kazutaka Ozeki, Yumi Kojima, Kensuke Naito, Kaori Uchino, Akihiro Tomita, Hiroatsu Iida, Naoto Imoto, Senji Kasahara, Yuichiro Inagaki, Tetsuya Nishida, Makoto Murata","doi":"10.14740/jh1289","DOIUrl":"10.14740/jh1289","url":null,"abstract":"<p><strong>Background: </strong>To investigate whether the addition of eltrombopag (EPAG) to rabbit anti-thymocyte globulin (ATG)-based immunosuppressive therapy (IST) for newly diagnosed severe aplastic anemia (SAA) improves outcomes and affects the cumulative incidence of clonal evolution (CE), we conducted a multicenter retrospective analysis.</p><p><strong>Methods: </strong>Data were collected from 101 patients, aged 15 - 65 years, undergoing initial IST.</p><p><strong>Results: </strong>No significant imbalance in age, sex, or severity was observed between the EPAG (n = 20) and non-EPAG (n = 81) groups. The median duration of EPAG administration in EPAG group was 16.1 months (range: 0.6 - 41.1 months). Six months after the initiation of IST, the complete response (CR) rate significantly improved in the EPAG group (P < 0.01). The cumulative incidence of allogeneic stem cell transplantation (allo-SCT) at 2 years and the 2-year overall survival (OS) were not significantly different between the two groups (allo-SCT, P = 0.31; OS, P = 0.64). Grade 3-4 adverse events in the EPAG group and the cumulative incidence of CE (P = 0.96) showed no increase.</p><p><strong>Conclusion: </strong>In summary, IST showed significantly better initial efficacy in the EPAG group. Although the addition of EPAG did not reduce the need for allo-SCT, no increase was observed in the incidence of CE with long-term EPAG use.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 4","pages":"142-149"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154319","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":"Frameshift Mutations in Leukemia-Associated Genes Correlate With Superior Outcomes in Patients Undergoing Allogeneic Stem Cell Transplant for <i>De Novo</i> Acute Myeloid Leukemia.","authors":"Emma Cammann, Sindha Madhav, Lloyd Hutchinson, Jan Cerny, Muthalagu Ramanathan, Jacob R Bledsoe, Vladislav Makarenko, Shyam A Patel, Xiuling Meng, Keith Tomaszewicz, Rajneesh Nath, Benjamin Chen, Bruce Woda, William Selove","doi":"10.14740/jh1276","DOIUrl":"10.14740/jh1276","url":null,"abstract":"<p><strong>Background: </strong>Allogeneic stem cell transplant (allo-SCT) is a mainstay of treatment for acute myeloid leukemia (AML). Its success depends largely on response of donor T lymphocytes against leukemia cells, known as graft-vs-leukemia (GvL) effect. A key potential driver of GvL is immune response to mutation-derived neoantigens. Previous studies in solid tumors have demonstrated enhanced immunogenicity of frameshift (FS)-derived peptides vs. those from non-synonymous single nucleotide variants (SNVs). We therefore hypothesized that AML cases bearing FS mutations in leukemia-associated genes would be more immunogenic than those with only other types of mutations (non-FS), and thus benefit more from allo-SCT via more robust GvL.</p><p><strong>Methods: </strong>We identified AML patients who had undergone allo-SCT between 2010 and 2022 and had next-generation sequencing data available on diagnostic specimens using a 42-gene hot spot panel. We compared the impact of tumor mutations present at diagnosis on overall survival and relapse-free survival based on FS versus non-FS status.</p><p><strong>Results: </strong>Ninety-five AML allo-SCT patients were identified. We observed superior relapse-free survival (P = 0.038, hazard ratio (HR): 0.24) and borderline superior overall survival (P = 0.058, HR: 0.55) post-transplant in <i>de novo</i> AML patients, who had at least one FS mutation (other than <i>NPM1</i>) in one of the 42 assessed genes versus those with only non-FS mutations.</p><p><strong>Conclusions: </strong>Our findings suggest that FS-mutated AML cases may benefit more from allo-SCT than those with only non-FS mutations, possibly due to increased generation of immunogenic neoepitopes. If validated in an expanded study, incorporation of somatic FS mutation status in AML could improve patient selection algorithms for bone marrow transplant and thereby lead to superior outcomes.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 3","pages":"86-93"},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141592612","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":"Acquired Aplastic Anemia Therapies: Immunosuppressive Therapy Versus Alternative Donor Hematopoietic Cell Transplantation.","authors":"Baldeep Wirk","doi":"10.14740/jh1264","DOIUrl":"10.14740/jh1264","url":null,"abstract":"<p><p>Immunosuppressive therapy for acquired severe aplastic anemia improves pancytopenia but has a significant risk of relapse (40%) and clonal evolution to myeloid neoplasms (15%), especially in patients older than 40. Yet, current guidelines for newly diagnosed severe aplastic anemia patients over the age of 40 recommend immunosuppressive therapy instead of curative allogeneic stem cell transplantation. Upfront allogeneic stem cell transplants are restricted to the rare patient who is not only young but also has a matched sibling donor. This article will discuss practice-changing data on the recent advances in upfront alternative donor hematopoietic cell transplants that could rewrite current treatment algorithms.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 3","pages":"61-70"},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590453","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":"Characterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia.","authors":"Fulvio Castelgrande, Gemma Viola, Cinzia Calabrese, Mariannina Iozzo, Renato Massoud, Massimo Pieri, Marilena Minieri, Gaspare Adorno, Sergio Bernardini, Alessandro Terrinoni","doi":"10.14740/jh1204","DOIUrl":"10.14740/jh1204","url":null,"abstract":"<p><p>Thalassemic diseases are characterized by a reduced (β⁺) or absent (β⁰) synthesis of the globin chains of hemoglobin (Hb) due to genetic mutations. β-thalassemia was more frequent in the Mediterranean area, but now it is diffused worldwide. Three possible genetic forms can be distinguished: β⁰/β⁰, the most severe (Cooley's disease); β⁰/β⁺ of intermediate severity; β⁺/β⁺ associated with β-thalassemia intermedia or minor. Recently, a clinical non-genetic classification has been proposed: transfusion-dependent thalassemia (TDT), requiring regular lifetime blood transfusions, and non-transfusion-dependent thalassemia (NTDT), requiring occasional transfusions to manage acute cases. In this report, we studied a patient whose blood count indicated a severe anemia but also showed thrombocytosis, leukocytosis, and an elevated number of nucleated red blood cells (NRBC). These altered blood parameters suggested initially a possible diagnosis of hemoglobinopathy or myeloproliferative syndrome. The molecular and genetic analyses demonstrated the presence of HbF (5.3%) and HbA2 (7.7%) and the presence of the homozygote mutation (IVS1.6T>C) in the β-globin gene. According to these data, a diagnosis of β-thalassemia intermedia form has been proposed. Nevertheless, the clinical condition, the presence of thrombocytosis, leukocytosis, an elevated number of NRBC, and the frequent blood transfusions lead to reclassification of the patient as TDT subject. Consequently, this result suggests that a unique genotype-phenotype correlation is not possible in the presence of β⁺mutations since other concomitant pathologies can exacerbate the disease.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 3","pages":"108-115"},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236363/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590454","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":"Non-Secretory Multiple Myeloma Associated With High-Risk Phenotype and Complex Cytogenetics Including t(8;22).","authors":"Rahim A Jiwani, Joseph R Liput, Attah Abraham, Khaled Alhamad, Mukta Kapdi, Renan Mota, Kayla Forte, John R McGill, Jasper C Acer, Palgun Nisarga, Nicholas R Jaeger, Santhosh Sadashiv, Prerna Mewawalla","doi":"10.14740/jh1248","DOIUrl":"10.14740/jh1248","url":null,"abstract":"<p><p>Multiple myeloma (MM) is a plasma cell dyscrasia which is typically characterized by identifiable paraprotein in the blood or urine. However, the minority of patients in whom paraprotein cannot be identified are designated non-secretory MM (NSM). Evaluation of treatment response is more difficult in these patients as paraprotein levels cannot be followed. A dearth of clinical trials including these patients exists because of an inability to measure response by classical serum and urine measurement mechanisms as well as seemingly decreased overall survival compared to secretory MM. NSM is subdivided into four subgroups: \"non-producers\", \"true non-secretors\", \"oligosecretors\" and \"false non-secretors\". The \"non-producers\" phenotype is associated with more aggressive disease course. Translocations such as those involving the proto-oncogene <i>c-MYC</i> (chromosome 8) and the lambda light chain gene <i>IGL</i> (chromosome 22) - more commonly associated with Burkitt lymphoma - are rare in MM. We describe a 60-year-old male with NSM who was identified as having multiple high-risk features including complex cytogenetics and a non-producer phenotype, which are features not considered in conventional MM staging and risk stratification. This case highlights the need for awareness of phenotypes and cytogenetics associated with higher clinical risk that are not included in the revised International Staging System.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 3","pages":"94-98"},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Hemoglobinopathy That Produces an Array of Different Hemoglobin A1c Values.","authors":"Maximo J Marin, Bremansu Osa-Andrews, Patrick A Maher, Clive Wasserfall, William E Winter, Ashraf B Muzwagi, Neil S Harris","doi":"10.14740/jh1268","DOIUrl":"10.14740/jh1268","url":null,"abstract":"<p><p>Hemoglobin A1c (HbA1c) refers to non-enzymatically glycated hemoglobin and reflects the patient's glycemic status over approximately 3 months. An elevated HbA1c over 6.5% National Glycohemoglobin Standardization Program (NGSP) (48 mmol/mol the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC)) can be used to diagnose diabetes mellitus. In our laboratory, HbA1c is determined by ion-exchange chromatography which has the advantage of detecting common Hb variants such as Hb S, C, E and D without adversely affecting the HbA1c determination. Certain homozygous or compound heterozygous hemoglobinopathies such as homozygous sickle disease and Hb SC disease can significantly lower the HbA1c by reducing red cell lifespan. Occasionally however, rare and mostly benign hemoglobinopathies can interfere with this technique resulting in an apparent elevation of HbA1c in an otherwise non-diabetic patient. In this report, we describe such a hemoglobinopathy termed Hb Wayne that resulted in a significant HbA1c elevation in a normoglycemic individual. HbA1c was determined by multiple methods including immunoassay, a modified capillary electrophoresis and an alternative ion-exchange system. These techniques yielded significantly lower A1c results, more in keeping with the patient's clinical background. The alternative ion-exchange system resulted in a low A1c that was qualified by warning flags on the chromatogram that indicated the result was not reportable. The hemoglobinopathy in question, Hb Wayne, is a frameshift mutation in the alpha globin gene that results in an extended alpha globin polypeptide that can form two variants Hb Wayne I and Wayne II. Hb Wayne is a clinically silent asymptomatic disorder with no hematologic consequences. The artifactual elevation of HbA1c is, in contrast, very significant because it may result in a misdiagnosis of diabetes mellitus leading to unnecessary treatment. In this report, we compare our findings with other descriptions of Hb Wayne in the literature and corroborate a number of previous observations and conclusions.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":"13 3","pages":"99-103"},"PeriodicalIF":1.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}