Acta Haematologica最新文献

{"title":"The Effectiveness of the Intermediate and Therapeutic Doses of Enoxaparin in COVID-19 Patients: A Comparative Study of Factor Xa Inhibition.","authors":"Mansoor Masjedi,&nbsp;Sina Azadikhah,&nbsp;Farid Zand,&nbsp;Naeimehossadat Asmarian,&nbsp;Golnar Sabetian,&nbsp;Mina Ostovan,&nbsp;Vida Naderi-Boldaji","doi":"10.1159/000528736","DOIUrl":"https://doi.org/10.1159/000528736","url":null,"abstract":"<p><strong>Background: </strong>Management of anticoagulant therapy in COVID-19 patients is critical. Low-molecular-weight heparin (LMWH) thromboprophylaxis is already recommended, and anti-Factor Xa (anti-FXa) monitoring has been used to titrate LMWH doses.</p><p><strong>Methods: </strong>Through a cross-sectional study, we evaluated anti-FXa activity in patients admitted to the ICU, receiving intermediate dose (30, 40, 50 mg, subcutaneously [SC], twice daily) or therapeutic dose (1 mg/kg, SC, Q12h) of enoxaparin to find whether the patients in these two groups achieved anti-FXa levels in the accepted thromboprophylaxis range.</p><p><strong>Results: </strong>The occurrence of deep vein thrombosis was 26% in the therapeutic-dose group and 17% in the intermediate-dose group. D-dimer values were nearly 3.5-fold higher in those who received a therapeutic dose of anticoagulants than in those who received intermediate-dose thromboprophylaxis. Patients in the therapeutic-dose group had significantly higher IL-6 levels (p ≤ 0.001). More than one-third of the patients in the therapeutic-dose group (n = 8; 42.18%) and approximately half of the patients in the intermediate-dose group (n = 12; 52.2%) achieved the target range level of anti-FXa. Patients who received therapeutic doses were more likely to have anti-FXa levels above the expected range (47.4 vs 13% in the intermediate-dose group; p < 0.05).</p><p><strong>Conclusion: </strong>Therapeutic dose of enoxaparin in critically ill COVID-19-infected patients did not reduce the incidence of thromboembolic events and, on the other hand, may predispose these patients to increased risk of bleeding by increasing anti-FXa activity above the desired level. Administration of intermediate-dose thromboprophylaxis is suggested to achieve anti-FXa levels in the accepted thromboprophylaxis range.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 2","pages":"137-143"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892991/pdf/aha-0001.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9196409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-Reported Outcomes in Young Adults with Myeloproliferative Neoplasms.","authors":"Mei Bao,&nbsp;Mengyu Zhang,&nbsp;Hongxia Shi,&nbsp;Xiaoli Liu,&nbsp;Minghui Duan,&nbsp;Junling Zhuang,&nbsp;Xin Du,&nbsp;Ling Qin,&nbsp;Wuhan Hui,&nbsp;Rong Liang,&nbsp;Meifang Wang,&nbsp;Ye Chen,&nbsp;Dongyun Li,&nbsp;Wei Yang,&nbsp;Gusheng Tang,&nbsp;Weihua Zhang,&nbsp;Xia Kuang,&nbsp;Wei Su,&nbsp;Yanqiu Han,&nbsp;Limei Chen,&nbsp;Jihong Xu,&nbsp;Zhuogang Liu,&nbsp;Jian Huang,&nbsp;Chunting Zhao,&nbsp;Hongyan Tong,&nbsp;Jianda Hu,&nbsp;Chunyan Chen,&nbsp;Xiequn Chen,&nbsp;Zhijian Xiao,&nbsp;Qian Jiang","doi":"10.1159/000529750","DOIUrl":"https://doi.org/10.1159/000529750","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic landscape, disease characteristics, and clinical outcomes of young adults with myeloproliferative neoplasms (MPNs) were reported. However, data on patient-reported outcomes (PROs) in young adults with MPNs were rare.</p><p><strong>Methods: </strong>We conducted a multicenter, cross-sectional study to compare the PROs in respondents with thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF) by age at survey, including the young group (18-40 years), middle-aged group (41-60 years), and elderly group (&gt;60 years).</p><p><strong>Results: </strong>Of the 1,664 respondents with MPNs, 349 (21.0%) were young including 244 (69.9%) with ET, 34 (9.7%) with PV, and 71 (20.3%) with MF. In multivariate analyses, the young groups with ET and MF were associated with the lowest MPN-10 scores among the 3 age groups; those with MF, highest proportion of reporting negative impact of disease and therapy on their daily life and work. The young groups with MPNs had the highest physical component summary scores but the lowest mental component summary scores in those with ET. The young groups with MPNs were most concerned about fertility; those with ET, treatment-related adverse events and long-term efficacy of treatment.</p><p><strong>Conclusions: </strong>We concluded that young adults with MPNs have different PROs compared with middle-aged and elderly patients.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 4","pages":"293-306"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10355421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stroke Prevention with Hydroxyurea Enabled through Research and Education: A Phase 2 Primary Stroke Prevention Trial in Sub-Saharan Africa.","authors":"Luke R Smart, Emmanuela E Ambrose, Georgina Balyorugulu, Primrose Songoro, Idd Shabani, Protas Komba, Mwesige Charles, Thad A Howard, Kathryn E McElhinney, Sara M O'Hara, Jodie Odame, Maria Nakafeero, Janet Adams, Susan E Stuber, Adam Lane, Teresa S Latham, Abel N Makubi, Russell E Ware","doi":"10.1159/000526322","DOIUrl":"10.1159/000526322","url":null,"abstract":"<p><strong>Introduction: </strong>Stroke is a severe complication of sickle cell anemia (SCA), with devastating sequelae. Transcranial Doppler (TCD) ultrasonography predicts stroke risk, but implementing TCD screening with suitable treatment for primary stroke prevention in low-resource environments remains challenging. SPHERE (NCT03948867) is a prospective phase 2 open-label hydroxyurea trial for SCA in Tanzania.</p><p><strong>Methods: </strong>After formal training and certification, local personnel screened children 2-16 years old; those with conditional (170-199 cm/s) or abnormal (≥200 cm/s) time-averaged mean velocities (TAMVs) received hydroxyurea at 20 mg/kg/day with dose escalation to maximum tolerated dose (MTD). The primary study endpoint is change in TAMV after 12 months of hydroxyurea; secondary endpoints include SCA-related clinical events, splenic volume and function, renal function, infections, hydroxyurea pharmacokinetics, and genetic modifiers.</p><p><strong>Results: </strong>Between April 2019 and April 2020, 202 children (average 6.8 ± 3.5 years, 53% female) enrolled and underwent TCD screening; 196 were deemed eligible by DNA testing. Most had numerous previous hospitalizations and transfusions, with low baseline hemoglobin (7.7 ± 1.1 g/dL) and %HbF (9.3 ± 5.4%). Palpable splenomegaly was present at enrollment in 49 (25%); average sonographic splenic volume was 103 mL (range 8-1,045 mL). TCD screening identified 22% conditional and 2% abnormal velocities, with hydroxyurea treatment initiated in 96% (45/47) eligible children.</p><p><strong>Conclusion: </strong>SPHERE has built local capacity with high-quality research infrastructure and TCD screening for SCA in Tanzania. Fully enrolled participants have a high prevalence of elevated baseline TCD velocities and splenomegaly. SPHERE will prospectively determine the benefits of hydroxyurea at MTD for primary stroke prevention, anticipating expanded access to hydroxyurea treatment across Tanzania.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 2","pages":"95-105"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10100573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9295314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.","authors":"Shuting Jiang,&nbsp;Yuan Chen,&nbsp;Meina Liu,&nbsp;Manlin Zeng,&nbsp;Lihong Yang,&nbsp;Yanhui Jin,&nbsp;Kaiqi Jia,&nbsp;Mingshan Wang","doi":"10.1159/000528583","DOIUrl":"https://doi.org/10.1159/000528583","url":null,"abstract":"<p><strong>Introduction: </strong>Mutations in the F11 gene can cause factor XI (FXI) deficiency, leading to abnormal coagulation activity and injury-related bleeding tendency. Therefore, identifying F11 gene mutations and studying the molecular basis will help us understand the pathogenesis of FXI deficiency.</p><p><strong>Methods: </strong>Coagulation tests and gene sequencing analysis of all members were performed. FXI wild-type and mutant expression plasmids were constructed and transfected into HEK293FT cells. The FXI protein expression level was evaluated by ELISA and Western blot.</p><p><strong>Results: </strong>The FXI activity (FXI:C) and FXI antigen (FXI:Ag) of proband-1 were decreased to 2% and 5%, respectively. FXI:C and FXI:Ag of proband-2 were reduced to 15% and 32%, respectively. Four mutations were found in the two unrelated families, including c.536C>T (p.T179M), c.1556G>A (p.W519*), c.434A>G (p.H145R), and c.1325_1325delT (p.L442Cfs*8). In vitro studies in transiently transfected HEK293FT cells demonstrated that p.T179M, p.W519*, and p.L442Cfs*8 mutations significantly lowered the FXI levels in the culture media. The FXI levels in the culture media and cell lysates of p.H145R mutation were similar to the wild type.</p><p><strong>Conclusion: </strong>Our results confirm that the four mutations in the F11 gene are causative in the 2 FXI deficiency families. Moreover, the p.H145R mutation is a cross-reactive material (CRM)-positive phenotype. The other three mutations are CRM-negative phenotypes and lead to FXI protein secretion disorder.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 2","pages":"106-116"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9194841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low Rate of Infectious Enterocolitis in Allogeneic Stem Cell Transplant Recipients with Acute Diarrhea: A Prospective Study by the GETH-TC.","authors":"Sara Redondo Velao,&nbsp;Irene Garcia Cadenas,&nbsp;Mª Angeles Cuesta,&nbsp;Isabel Sanchez-Ortega,&nbsp;Francesc Fernández-Avilés,&nbsp;Elisa Roldan,&nbsp;Anna Torrent,&nbsp;M Cruz Viguria,&nbsp;Sara Villar,&nbsp;Leyre Bento,&nbsp;Lucrecia Yañez,&nbsp;Rodrigo Martino,&nbsp;Jose Luis Piñana","doi":"10.1159/000528242","DOIUrl":"https://doi.org/10.1159/000528242","url":null,"abstract":"<p><p>Acute diarrhea is a common and debilitating complication in recipients of allogeneic hematopoietic stem cell transplantation (HCT). In this prospective, observational, and multicenter study we examined all episodes occurring in the first 6 months of 142 consecutive adult patients who underwent a reduced-intensity conditioning HCT in 10 Spanish tertiary university hospitals. Fifty-four patients (38%) developed a total of 75 acute diarrhea episodes. The median time from HCT to the first episode was 38 days (4-157). The main cause of enterocolitis was lower GI-aGVHD (38%), followed by infections (21%) and drug-related toxicity (8%). Causative infectious causes were identified in only 16/75 episodes (21%). C. difficile-related infection was the most common infectious agent with an incidence and recurrence of 13% and 2%, respectively. With a median follow-up for survivors of 32 months, the non-relapse mortality (NRM) and the overall survival (OS) at 1 year, were 20% (95% C.I.: 14-28%) and 69% (95% C.I.: 61-77%), respectively. Development of enterocolitis was not associated with higher NRM (p = 0.37) or worse OS (p = 0.9). This real-life study confirms that the diagnosis and management of acute diarrhea in the early stages after HCT is challenging. Nosocomial infections seem to be relatively uncommon, probably due to more rational use of antibiotics.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 2","pages":"161-165"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10249261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum.","authors":"","doi":"10.1159/000529163","DOIUrl":"https://doi.org/10.1159/000529163","url":null,"abstract":"","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 2","pages":"172"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10253124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-Term Safety and Efficacy of Eltrombopag for Advanced Myelodysplastic Syndromes or Acute Myeloid Leukemia and Severe Thrombocytopenia: Results of the ASPIRE Extension Study.","authors":"Moshe Mittelman,&nbsp;Uwe Platzbecker,&nbsp;Sebastian Grosicki,&nbsp;Tomasz Lawniczek,&nbsp;Zewen Zhu,&nbsp;Dominik Selleslag","doi":"10.1159/000531146","DOIUrl":"10.1159/000531146","url":null,"abstract":"<p><p>ASPIRE, a three-part, international, phase 2 trial (ClinicalTrials.gov identifier: NCT01440374), investigated eltrombopag efficacy and safety in patients with advanced myelodysplastic syndrome or acute myeloid leukemia and grade 4 thrombocytopenia (&lt;25 × 109 platelets/L). Approximately 30-65% of patients in this open-label extension phase experienced clinically relevant thrombocytopenic events; no conclusions could be made regarding long-term efficacy (non-randomized design, no placebo control), and survival rates may simply reflect advanced disease. Long-term safety was consistent with the double-blind phase and contrasted with earlier SUPPORT study findings in higher-risk patients, suggesting that eltrombopag may have a role in treating thrombocytopenia in patients with low-/intermediate-risk myelodysplastic syndrome.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"373-378"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9527227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"On Behalf of the SFGM-TC: Prophylactic Donor Lymphocyte Infusion in Patients Treated with Allogeneic Stem-Cell Transplantation for High-Risk Myelodysplastic Syndrome and Acute Myeloid Leukemia.","authors":"Charles Guisnel,&nbsp;Luciane Schirmer,&nbsp;Stéphane Morisset,&nbsp;Marie Robin,&nbsp;Hélène Labussière-Wallet,&nbsp;Rémy Duléry,&nbsp;Patrice Ceballos,&nbsp;Edouard Forcade,&nbsp;Stéphanie Nguyen,&nbsp;Xavier Poiré,&nbsp;Johan Maertens,&nbsp;Sylvain Chantepie,&nbsp;Patrice Chevallier,&nbsp;Etienne Daguindau,&nbsp;Alban Villate,&nbsp;Amandine Charbonnier,&nbsp;Cristina Castilla-Llorente,&nbsp;Nathalie Contentin,&nbsp;Anne Huynh,&nbsp;Ibrahim Yakoub-Agha,&nbsp;Claude Eric Bulabois,&nbsp;Marie-Thérèse Rubio,&nbsp;Maud D'Aveni","doi":"10.1159/000528184","DOIUrl":"https://doi.org/10.1159/000528184","url":null,"abstract":"<p><strong>Introduction: </strong>Allogeneic hematopoietic stem-cell transplantation (allo-HSCT) remains the best curative option for high-risk myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Unfortunately, it is still associated with a significant risk of relapse due to mechanisms of escape from the control of alloreactive T cells. Repetitive adjuvant donor lymphocyte infusion (DLI), termed prophylactic DLI (proDLI), as an effective strategy in preventing relapse is still debated.</p><p><strong>Methods: </strong>We performed a retrospective multicenter study to evaluate the efficacy of proDLI in allografted AML and MDS. We identified 56 patients treated with proDLI (DLI planned in full chimeras without any sign of disease relapse) and matched them to 167 patients in control group, (DLI performed for mixed chimerism or positive minimal residual disease) based on similar age, initial disease, cytogenetic prognosis, and conditioning intensity.</p><p><strong>Results: </strong>In univariate analysis, the incidence of severe aGVHD at 100 days and incidence of all grades of chronic GVHD 1 year after allo-HSCT were similar in the two groups. We also observed a trend of higher 3-year RI (52.61% [95% confidence interval 25.99-79.23]) in the proDLI group versus the control group (29.31% [20.28-38.34], p = 0.067). However, 3-year overall survival (p = 0.892), progression-free survival (p = 0.239), and nonrelapse mortality (p = 0.343) were similar between the two groups. In multivariate analysis, the only factor influencing overall and progression-free survival was anti-thymocyte globulin administration during the conditioning regimen.</p><p><strong>Conclusion: </strong>The proDLI strategy had an acceptable toxicity profile but did not improve patient outcomes compared to the pre-emptive strategy.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 3","pages":"230-239"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9925820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case Report of Chronic Myelogenous Leukemia Presenting as Blastic Crisis with a T-Cell Acute Lymphoblastic Leukemia Phenotype: Awareness of a Rare Entity.","authors":"Maria Efstathopoulou, Katerina Zoi, Marina P Siakantaris, Daphne Koumbi, Anna Zannou, Evangelia-Faidra Triantafyllou, Gerassimos Tsourouflis, Eleftheria Lakiotaki, Theodoros P Vassilakopoulos, Maria K Angelopoulou","doi":"10.1159/000529911","DOIUrl":"10.1159/000529911","url":null,"abstract":"<p><p>Chronic myelogenous leukemia at blast crisis with a T-cell phenotype (T-ALL CML-BC) at diagnosis, without any prior history of CML is extremely rare. After the introduction of tyrosine kinase inhibitors (TKIs), CML patients have a median survival comparable to general population and accelerated/blast crisis are rarely encountered. Most CML patients (80%) transform into acute myeloid leukemia and the rest into B-ALL. Anecdotal cases of Ph+ T-ALL, either de novo or in the context of CML-BC have been reported. Left shift in the blood, the presence of splenomegaly/extramedullary infiltration and the occurrence of BCR::ABL1 rearrangement in both the blastic population, as well as in the myeloid cell compartment are key points in differentiating de novo Ph+ T-ALL from T-ALL CML-BC. The latter is a rare entity, characterized by extramedullary disease, p210 transcript and clonal evolution. Lack of preceding CML does not rule out the diagnosis of T-ALL CML-BC. Prompt TKI treatment with ALL-directed therapy followed by allogeneic stem cell transplantation may offer long-term survival in this otherwise poor prognosis entity. In this paper, we describe a patient with T-ALL CML-BC at presentation, still alive 51 months after diagnosis and we offer a review of the literature on this rare subject. All clinical and laboratory features are provided in order to distinguish de novo Ph+ T-ALL from T-ALL CML-BC, underscoring the prognostic and therapeutic significance of such a differentiation.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":" ","pages":"531-539"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9966673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"The Long Journey of Unexplained Erythrocytosis\": Erythrocytosis due to High-Oxygen Affinity Hemoglobinopathy - Hemoglobin Variant Little Rock (HBB: c.432C&gt;A) - A Report of a Swiss Family and Review of the Literature.","authors":"Camille Perroud, Naomi Porret, Alicia Rovó","doi":"10.1159/000530240","DOIUrl":"10.1159/000530240","url":null,"abstract":"<p><p>The differential diagnosis of erythrocytosis is complex, involving a tailored algorithm. Congenital causes are rare and such patients commonly face a long journey looking for diagnosis. This diagnosis requires expertise and accessibility to modern diagnostic tools. We present the case of a young Swiss man with long-standing erythrocytosis of unknown origin and his family. The patient had an episode of malaise as he went skiing above 2,000 m altitude. In the blood gas analysis, p50 was low (16 mm Hg) and erythropoietin was normal. Using next-generation sequencing, a mutation in the hemoglobin subunit beta gene was found, a pathogenic variant known as hemoglobin Little Rock causing high oxygen affinity. Some family members also had unexplained erythrocytosis, therefore the mutational status of the family was analyzed, the grandmother and mother showed the presence of the same mutation. The use of modern technology finally offered a diagnosis to this family.</p>","PeriodicalId":6981,"journal":{"name":"Acta Haematologica","volume":"146 4","pages":"326-330"},"PeriodicalIF":2.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9981556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}