Journal of hematology最新文献

{"title":"A Case of Autoimmune Myelofibrosis Associated With Autoimmune Hepatitis.","authors":"Hailey Tyndall, Lawrence Worobetz, Matthew Nicholson","doi":"10.14740/jh1297","DOIUrl":"https://doi.org/10.14740/jh1297","url":null,"abstract":"<p><p>Autoimmune myelofibrosis (AIMF) is a distinct, underrecognized, and rare cause of bone marrow fibrosis. It carries a favorable outcome and responds well to immunosuppression. Systemic lupus erythematosus is the most common association with AIMF, but there are other cases of associated autoimmune disorders defined in the literature. A 44-year-old female presented to hospital with a 1-month history of fatigue, malaise, and jaundice. She was found to be pancytopenic with elevated liver enzymes. Tests for Janus kinase 2, myeloproliferative leukemia, and calreticulin mutations were negative. Extensive investigations for hemolytic anemia including direct antiglobulin test, flow cytometry for paroxysmal nocturnal hemoglobinuria, testing for hereditary hemoglobinopathies, and hereditary red cell membrane disorders were non-contributory. Antinuclear antibody was positive at > 1,280, immunoglobulin G was 17.04 g/L, and anti-smooth muscle antibody (ASMA) was positive at 1:40. Characteristic features of AIMF on bone marrow biopsy led to the diagnosis of AIMF. The patient was started on prednisone 1 mg/kg with prolonged taper. Fibroscan and liver biopsy were consistent with cirrhosis and workups for other causes of liver dysfunction were unremarkable. She met criteria for diagnosis of autoimmune hepatitis (AIH). The pancytopenia and liver enzymes improved with prednisone. After 1 year of clinical stability, the patient had relapse of disease with pancytopenia, elevated liver enzymes, and similar fibrosis on repeat bone marrow biopsy. Prednisone was reinitiated at 1 mg/kg, and she was started on mycophenolate mofetil (MMF). Prednisone was tapered, and she continues to have an excellent response on MMF alone. We report a case of AIMF associated with AIH, complicated by non-immune hemolysis. AIMF is rare, and its association with AIH is described in only four other cases in the English-language literature. Overlapping biochemical features of AIH and non-immune hemolysis, which has not been well described in AIMF, lead to significant diagnostic complexity and delay. Despite this, a rapid response to corticosteroids was observed including reversal of profound transfusion dependence, normalization of hemoglobin, and reversal of biochemical evidence of hepatic inflammation. A shared pathogenesis of autoimmune fibrosis in both the bone marrow and liver is speculative but suggested by the temporal association in this case.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154314","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":"Disparities in Acute Lymphocytic Leukemia Outcomes Among Young Adults.","authors":"Zoe McKinnell, Daniel Tuerff, Mustafa Hammudi, Colleen Hamilton, Martha Antonio, Ramesh Subrahmanyam, Joao Ascensao, Maneesh Rajiv Jain","doi":"10.14740/jh1282","DOIUrl":"https://doi.org/10.14740/jh1282","url":null,"abstract":"<p><strong>Background: </strong>Age is a strong prognostic factor in acute lymphocytic leukemia (ALL), with children doing better than adults with the same disease. One hypothesis for this age-based disparity is differences in treatment regimens. Optimizing care for adolescents and young adults (AYA) with ALL has not been well defined and disparities in care exist. We conducted a retrospective study of all veterans with ALL diagnosed between the ages of 18 and 45 since the year 2000 to evaluate disparities among prognostication methods, treatment regimens, and accrual to clinical trials with regard to age and race/ethnicity and how these factors influence overall survival.</p><p><strong>Methods: </strong>Electronic medical record data from the VA Informatics and Computing Infrastructure (VINCI) were used to identify 6,724 patients with an ICD-9 or 10 code for ALL. All patients were chart checked to confirm an ALL diagnosis between the ages of 18 and 45 and excluded if they were diagnosed before 2000, had childhood ALL, or if induction protocol was not recorded. A total of 252 patients were included in the final analysis. Multivariate analysis was performed with controls for age, ALL subtype (B, T, mixed phenotype), Ph status, cytogenetic risk (based on modified Medical Research Council-Eastern Cooperative Oncology Group (MRC-ECOG) study), obesity (body mass index (BMI) > 30), and race.</p><p><strong>Results: </strong>Patients treated with pediatric regimens, including pediatric-inspired regimens, have statistically significant (P = 0.009) survival gains, with a hazard ratio (HR) of 0.52 after controlling for age, obesity, ALL subtype, cytogenetic risk and race. White patients had significantly improved OS compared to people of color (HR 0.57, P = 0.02) after controlling for the aforementioned covariates. Black patients were far less likely (23%) to receive a transplant than non-Black patients (46%). Only 7% of patients were treated on a clinical trial.</p><p><strong>Conclusions: </strong>These data demonstrate that treatment with a pediatric regimen significantly improves overall survival in patients up to the age of 45 and suggests ongoing shortcomings in treatment for young adults with ALL, especially 30 to 45 years old, including persistently high use of adult induction regimens, low rates of referral to clinical trials, and significant racial disparities in bone marrow transplants for Black patients.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154316","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":"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":"https://doi.org/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":null,"pages":null},"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":"https://doi.org/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":null,"pages":null},"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":"https://doi.org/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":null,"pages":null},"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":"https://doi.org/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":null,"pages":null},"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":"https://doi.org/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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}