[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-430126-105":59,"doc-detail-430126-en":131},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":124,"head_meta":126,"extra_data":128,"updated_unix":130},105,"en","hemoglobin-suresnes-combined-with-0-thalassemia-diagnostic-challenges-and-insights-from-trio-based-whole-exome-sequencing","Hemoglobin Suresnes combined with α0-thalassemia - Diagnostic challenges and insights from trio-based whole exome sequencing","","Hemoglobin Suresnes (Hb Suresnes) is a rare α-globin variant caused by p.Arg142His, which modifies oxygen affinity and can produce erythrocytosis. The first genetically confirmed East Asian case is reported where Hb Suresnes is co-inherited with α0-thalassemia (--/αα), identified by trio whole exome sequencing. A 33-year-old man had asymptomatic erythrocytosis, microcytosis, and family history. Overlapping findings initially mimicked polycythemia vera, but WES clarified the coexistence of hemoglobinopathies, preventing misdiagnosis and guiding appropriate management.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/hemoglobin-suresnes-combined-with-0-thalassemia-diagnostic-challenges-and-insights-from-trio-based-whole-exome-sequencing/430126/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/hemoglobin-suresnes-combined-with-0-thalassemia-diagnostic-challenges-and-insights-from-trio-based-whole-exome-sequencing/430126.png","ImageObject",300,407,{"name":92,"@type":93},"Rowan","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-30","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",12,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What genetic change causes Hemoglobin Suresnes, and what clinical effect can it cause?","Question",{"text":113,"@type":114},"Hb Suresnes results from a substitution of arginine to histidine at position 141 (p.Arg142His) in the α-globin chain. The structural change alters oxygen affinity and can lead to erythrocytosis.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"How was the co-inheritance of Hb Suresnes and α0-thalassemia determined?",{"text":118,"@type":114},"The case was diagnosed using patient–parent trio whole exome sequencing (WES). It identified a heterozygous Hb Suresnes variant inherited from the father and α0-thalassemia (--/αα) inherited from the mother.",{"name":120,"@type":111,"acceptedAnswer":121},"Why did the initial laboratory phenotype resemble polycythemia vera?",{"text":122,"@type":114},"The overlapping hematologic features, including erythrocytosis, mimicked polycythemia vera. This diagnostic pitfall was resolved by genetic testing with WES.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},430126,1790762384,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":19,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":52,"preview_page_count":4},1099514067415,"https://ap-avatar.wpscdn.com/avatar/100002539d78ffe74a7?x-image-process=image/resize,m_fixed,w_180,h_180&k=1779092875211072502","Annals of Hematology (2025) 104:6391–6394  \n[https://doi.org/10.1007/s00277-025-06714-2](https://doi.org/10.1007/s00277-025-06714-2)  \nCASE REPORT  \nHemoglobin suresnes combined with α0-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing  \nHung-Lin Liu1 · Wan-Ting Huang2,3,4,5  \nReceived: 5 July 2025 / Accepted: 27 October 2025 / Published online: 25 November 2025 © The Author(s) 2025  \nAbstract  \nHemoglobin Suresnes (Hb Suresnes) is a rare hemoglobin variant caused by a substitution of arginine to histidine at position 141 (p.Arg142His) in the COOH terminus of the α-globin chain. This structural change alters the oxygen affinity of hemoglobin and leads to erythrocytosis. We report the first genetically confirmed case of Hb Suresnes co-inherited with α0-thalassemia (--/αα) in an East Asian patient, diagnosed via trio whole exome sequencing (WES) . A 33-year-old male presented with asymptomatic erythrocytosis, microcytosis, and a family history of elevated red cell indices. Under genetic analysis with WES, we identified a heterozygous Hb Suresnes variant [NM_ 000558.3(HBA1): c.425G >A (p.Arg142His)] inherited from his father, alongside α0-thalassemia (--/αα) inherited from his mother. The overlapping hematologic phenotype initially mimicked polycythemia vera, prompting empirical therapeutic phlebotomy. This case highlights the diagnostic pitfall of misclassifying hereditary erythrocytosis as polycythemia vera and emphasizes the role of WES in resolving the complexity of coexisting hemoglobinopathies, ensuring accurate diagnosis and appropriate management.  \nKeywords Hb suresnes · α0-thalassemia · Co-inherited hemoglobinopathy · Whole exome sequencing · Case report  \nIntroduction  \nHemoglobin Suresnes (Hb Suresnes) is a rare hemoglobin variant with a replacement of arginine 141 to a histidine residue at the COOH terminus of the α chains [1, 2] . This variant affects the electrostatic interactions and oxygenlinked anion binding that result in a high affinity for oxygen, a decreased Bohr effect, reduced cooperativity in oxygen  \n􀀍 Wan-Ting Huang [huangwanting5@gmail.com](huangwanting5@gmail.com)  \n1 Department of Internal Medicine, Hematology-Oncology Division, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung 80145, Taiwan  \n2 School of Medicine, College of Medicine, Chang Gung University, Taoyuan 33382, Taiwan  \n3 Department of Pathology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung 83301, Taiwan  \n4 Department of Laboratory Medicine, Kaohsiung Medical Center, Chang Gung Memorial Hospital, 123, Ta-pei Road, Niao-Sung District, Kaohsiung 83301, Taiwan  \n5 Department of Medical Laboratory Sciences and Biotechnology, Fooyin University, Kaohsiung 83102, Taiwan  \nbinding and oxygen delivery to tissues [3] . This condition frequently results in erythrocytosis, which may remain asymptomatic in many individuals but can also be associated with symptoms, particularly when occurring alongside other hemoglobinopathies such as thalassemia [4] .  \nHb Suresnes was first identified in 1976 among members of a French family [1] . The reported Hb levels ranged from 15.1 to 16.5 mg/dL with a normal mean corpuscular volume (MCV) . While this variant has been previously identified in individuals of Caucasian, African American, and Costa Rican (Spanish-Indian) descent [5, 6], Hb Suresnes has not been previously reported in East Asia. Here, we present a case of Hb Suresnes/α0-thalassemia (--/αα) and uncover genetic alterations through trio-whole exome sequencing (WES) .  \nPatient presentation  \nA 33-year-old man had been well until abnormal complete blood count (CBC) results were detected by a health examination. Laboratory data revealed erythrocytosis (9 .51 × 106/ uL), with a hemoglobin level of 18.7 g/dL and a MCV of 59.4 fL. The white blood cell count and platelet count were  \nwithin normal limits. He is a non-smoker with no history of cardiopulmonary disorders. The family history revealed erythrocytosis in his","cbCaiicjF4BeT5lO","https://ap.wps.com/l/cbCaiicjF4BeT5lO","pdf",621093,"English","# Abstract\n# Introduction\n# Patient presentation","[{\"question\":\"What genetic change causes Hemoglobin Suresnes, and what clinical effect can it cause?\",\"answer\":\"Hb Suresnes results from a substitution of arginine to histidine at position 141 (p.Arg142His) in the α-globin chain. The structural change alters oxygen affinity and can lead to erythrocytosis.\"},{\"question\":\"How was the co-inheritance of Hb Suresnes and α0-thalassemia determined?\",\"answer\":\"The case was diagnosed using patient–parent trio whole exome sequencing (WES). It identified a heterozygous Hb Suresnes variant inherited from the father and α0-thalassemia (--/αα) inherited from the mother.\"},{\"question\":\"Why did the initial laboratory phenotype resemble polycythemia vera?\",\"answer\":\"The overlapping hematologic features, including erythrocytosis, mimicked polycythemia vera. This diagnostic pitfall was resolved by genetic testing with WES.\"}]","Hemoglobin Suresnes combined with α0-thalassemia - Diagnostic challenges and insights from trio-based whole exome sequencing | PDF",1790651972]