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This case report describes a 30-year-old Pakistani man with 100% HbF and recurrent thrombotic events, including splenic thrombosis and an unprovoked pulmonary embolism, along with chronic systemic symptoms. Extensive evaluation, including bone marrow biopsy, advanced imaging, and multidisciplinary assessment, left diagnosis difficult until genetic testing showed a homozygous Asian-Indian deletion-inversion in the β-globin cluster.",{"@graph":69,"@context":122},[70,84,105],{"@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/hereditary-persistence-of-fetal-hemoglobin-presenting-with-100-fetal-hemoglobin-and-recurrent-thrombotic-events/422261/",{"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/hereditary-persistence-of-fetal-hemoglobin-presenting-with-100-fetal-hemoglobin-and-recurrent-thrombotic-events/422261.png","ImageObject",300,407,{"name":92,"@type":93},"Well Done","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-06","2026-09-28",true,{"@type":102,"interactionType":103,"userInteractionCount":44},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"Why are elevated fetal hemoglobin levels in adulthood considered rare?","Question",{"text":112,"@type":113},"HbF is typically replaced by adult hemoglobin after birth. Persistent high HbF in adulthood is uncommon and is usually linked to specific genetic conditions such as hereditary persistence of fetal hemoglobin (HPFH) or hemoglobinopathies.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What genetic finding confirmed the diagnosis in this case?",{"text":117,"@type":113},"Genetic testing identified a homozygous Asian-Indian deletion-inversion in the β-globin cluster, confirming HPFH.",{"name":119,"@type":110,"acceptedAnswer":120},"How did the patient’s clinical course involve thrombotic complications?",{"text":121,"@type":113},"The patient experienced recurrent thrombotic events, including splenic thrombosis and an unprovoked pulmonary embolism, alongside persistent leukocytosis and compensated hemolysis.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},422261,1790918584,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":44,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":24,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},5909892210082,"https://ap-avatar.wpscdn.com/avatar/56001069da27c9f41e8?x-image-process=image/resize,m_fixed,w_180,h_180&k=1789614185077863061","Review began 11/09/2025  \nReview ended 12/01/2025  \nPublished 12/04/2025  \n© Copyright 2025  \nLachhar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0. , which permits unrestricted use , distribution , and reproduction in any medium , provided the original author and source are credited.  \nDOI: 10.7759/cureus.98434  \nOpen Access Case Report  \nHereditary Persistence of Fetal Hemoglobin Presenting With 100% Fetal Hemoglobin and Recurrent Thrombotic Events  \nGarry G. Lachhar 1 , Salman Syed 2, Ali Abdullah 2, Alexandros Konstantinidis 2 , Stephen Pentheros 3, Alfredo Torres 4  \n1. Hematology and Oncology, Northwell Health, New York, USA 2. Internal Medicine, Northwell Health, New York, USA  \n3. Hematology and Oncology, New York Cancer and Blood Specialists, New York, USA 4. Oncology, New York Cancer and Blood Specialists, New York, USA  \nCorresponding author: Salman Syed, [ssyed19@northwell.edu](ssyed19@northwell.edu)  \nAbstract  \nFetal hemoglobin (HbF) is the predominant hemoglobin during fetal development, typically replaced by adult hemoglobin after birth. Elevated HbF levels in adulthood are rare and often associated with genetic conditions such as hereditary persistence of fetal hemoglobin (HPFH) or hemoglobinopathies. We present the case of a 30-year-old Pakistani male with 100% HbF, recurrent thrombotic events, including splenic thrombosis and unprovoked pulmonary embolism, and chronic systemic symptoms. Despite extensive evaluation, including bone marrow biopsy, advanced imaging, and multidisciplinary consultations, establishing a definitive diagnosis remained challenging. Genetic testing revealed a homozygous AsianIndian deletion-inversion in the β-globin cluster. The patient’s clinical course was complicated by persistent leukocytosis and compensated hemolysis. To our knowledge, this represents the first reported case in the literature of an adult with 100% HbF presenting with recurrent thrombotic complications. This case highlights the diagnostic complexity of rare hematological conditions and the potential association between 100% HbF and thrombotic complications, challenging the traditional view of HPFH as a benign condition.  \nCategories: Hematology, Genetics, Internal Medicine  \nKeywords: asian-indian deletion-inversion, beta-globin gene, fetal hemoglobin, hereditary persistence of fetal hemoglobin, thrombosis  \nIntroduction  \nFetal hemoglobin (HbF), composed of two alpha and two gamma globin chains (α2γ2), is the primary oxygen carrier during fetal life. In healthy individuals, HbF levels decline rapidly after birth, comprising fewer than 1% of total hemoglobin by six months of age [1] . Hereditary persistence of fetal hemoglobin (HPFH) represents a group of genetic conditions characterized by continued γ-globin gene expression into adulthood, resulting in elevated HbF levels without significant hematological abnormalities [2] .  \nHPFH can be classified into deletional and non-deletional forms. Deletional HPFH results from large deletions in the β-globin gene cluster that remove the δ and β genes while preserving or enhancing γ -gene expression. Non-deletional HPFH arises from point mutations in the γ-globin gene promoters that disrupt the normal developmental silencing of these genes [3] . The Asian-Indian deletion-inversion represents a unique form involving complex DNA rearrangement with both deletion and inversion of the β-globin cluster  \n[4] .  \nWhile HPFH is traditionally considered benign, emerging evidence suggests potential clinical implications. We present, to our knowledge, the first reported case in the literature of a young adult with 100% HbF complicated by recurrent thrombotic events despite anticoagulation therapy, highlighting the diagnostic and therapeutic complexities of this rare condition.  \nCase Presentation  \nA 30-year-old Pakistani male was referred to our hematology clinic for evaluation of persistent leukocytosisand c","cbCaicd6wobWCvPl","https://ap.wps.com/l/cbCaicd6wobWCvPl","pdf",2913034,"English","# Introduction\n## Case Presentation\n# Discussion\n# Conclusion","[{\"question\":\"Why are elevated fetal hemoglobin levels in adulthood considered rare?\",\"answer\":\"HbF is typically replaced by adult hemoglobin after birth. Persistent high HbF in adulthood is uncommon and is usually linked to specific genetic conditions such as hereditary persistence of fetal hemoglobin (HPFH) or hemoglobinopathies.\"},{\"question\":\"What genetic finding confirmed the diagnosis in this case?\",\"answer\":\"Genetic testing identified a homozygous Asian-Indian deletion-inversion in the β-globin cluster, confirming HPFH.\"},{\"question\":\"How did the patient’s clinical course involve thrombotic complications?\",\"answer\":\"The patient experienced recurrent thrombotic events, including splenic thrombosis and an unprovoked pulmonary embolism, alongside persistent leukocytosis and compensated hemolysis.\"}]","Hereditary Persistence of Fetal Hemoglobin Presenting With 100% Fetal Hemoglobin and Recurrent Thrombotic Events | PDF",1790626651,13]