A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis
Background Dehydrated Hereditary Stomatocytosis (DHS), also known as Hereditary Xerocytosis (HX), is a rare genetic disorder primarily arising from gain-of-function mutations in PIEZO1, which disrupt mechanosensitive ion channels on red blood cell membranes. This dysfunction leads to cellular dehydr...
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Taylor & Francis Group
2025-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2025.2493014 |
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| author | Weijie Chen Xinyu Li Huaqing Yang Chao Niu Yushan Huang Lang Qin Mingyan Fang Shaofen Lin Kaimei Wang Yuan Zhuang Yuhua Ye Xin Jin Jianpei Fang Xiangmin Xu Ke Huang Honggui Xu |
| author_facet | Weijie Chen Xinyu Li Huaqing Yang Chao Niu Yushan Huang Lang Qin Mingyan Fang Shaofen Lin Kaimei Wang Yuan Zhuang Yuhua Ye Xin Jin Jianpei Fang Xiangmin Xu Ke Huang Honggui Xu |
| author_sort | Weijie Chen |
| collection | DOAJ |
| description | Background Dehydrated Hereditary Stomatocytosis (DHS), also known as Hereditary Xerocytosis (HX), is a rare genetic disorder primarily arising from gain-of-function mutations in PIEZO1, which disrupt mechanosensitive ion channels on red blood cell membranes. This dysfunction leads to cellular dehydration and chronic anemia, while DHS/HX cells exhibit increased hypotonic resistance. Interpreting PIEZO1 variants requires integrating clinical findings with specialized knowledge.Methods Laboratory tests, whole-genome sequencing, and Sanger sequencing were conducted for clinical phenotyping and identification of disease-causing mutations within the proband and his parents.Results The proband was found to have both β-thalassemia trait and Dehydrated Hereditary Stomatocytosis. The proband inherited compound heterozygous mutations in the PIEZO1 gene (c.136G > A and c.6307C > G) from his mother and father, respectively. Additionally, the proband had a heterozygous β-globin gene mutation (c.315 + 2delT) inherited from his father.Conclusion Compared to patients with either DHS/HX or β-thalassemia alone, this patient, as a β-thalassemia carrier with suspected Dehydrated Hereditary Stomatocytosis, exhibited highly complex laboratory findings. Genetic testing played a crucial role in diagnosing conditions with overlapping clinical features. Given the increased risk of thromboembolic complications, splenectomy is contraindicated in DHS/HX patients, highlighting the necessity for precise diagnosis of DHS/HX and molecular confirmation of suspected hereditary red blood cell disorders. |
| format | Article |
| id | doaj-art-0a009b78c40248ddb066a6598d02c8a4 |
| institution | Kabale University |
| issn | 1607-8454 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-0a009b78c40248ddb066a6598d02c8a42025-08-20T03:52:16ZengTaylor & Francis GroupHematology1607-84542025-12-0130110.1080/16078454.2025.2493014A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosisWeijie Chen0Xinyu Li1Huaqing Yang2Chao Niu3Yushan Huang4Lang Qin5Mingyan Fang6Shaofen Lin7Kaimei Wang8Yuan Zhuang9Yuhua Ye10Xin Jin11Jianpei Fang12Xiangmin Xu13Ke Huang14Honggui Xu15Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of ChinaDepartment of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of ChinaDepartment of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of ChinaInnovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, People’s Republic of ChinaInnovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, People’s Republic of ChinaDepartment of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of ChinaDepartment of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of ChinaInnovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of ChinaInnovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing, People’s Republic of ChinaDepartment of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of ChinaInnovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, People’s Republic of ChinaDepartment of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of ChinaDepartment of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People’s Republic of ChinaBackground Dehydrated Hereditary Stomatocytosis (DHS), also known as Hereditary Xerocytosis (HX), is a rare genetic disorder primarily arising from gain-of-function mutations in PIEZO1, which disrupt mechanosensitive ion channels on red blood cell membranes. This dysfunction leads to cellular dehydration and chronic anemia, while DHS/HX cells exhibit increased hypotonic resistance. Interpreting PIEZO1 variants requires integrating clinical findings with specialized knowledge.Methods Laboratory tests, whole-genome sequencing, and Sanger sequencing were conducted for clinical phenotyping and identification of disease-causing mutations within the proband and his parents.Results The proband was found to have both β-thalassemia trait and Dehydrated Hereditary Stomatocytosis. The proband inherited compound heterozygous mutations in the PIEZO1 gene (c.136G > A and c.6307C > G) from his mother and father, respectively. Additionally, the proband had a heterozygous β-globin gene mutation (c.315 + 2delT) inherited from his father.Conclusion Compared to patients with either DHS/HX or β-thalassemia alone, this patient, as a β-thalassemia carrier with suspected Dehydrated Hereditary Stomatocytosis, exhibited highly complex laboratory findings. Genetic testing played a crucial role in diagnosing conditions with overlapping clinical features. Given the increased risk of thromboembolic complications, splenectomy is contraindicated in DHS/HX patients, highlighting the necessity for precise diagnosis of DHS/HX and molecular confirmation of suspected hereditary red blood cell disorders.https://www.tandfonline.com/doi/10.1080/16078454.2025.2493014PIEZO1dehydrated hereditary stomatocytosishereditary xerocytosisβ-thalassemiawhole-genome sequencing |
| spellingShingle | Weijie Chen Xinyu Li Huaqing Yang Chao Niu Yushan Huang Lang Qin Mingyan Fang Shaofen Lin Kaimei Wang Yuan Zhuang Yuhua Ye Xin Jin Jianpei Fang Xiangmin Xu Ke Huang Honggui Xu A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis Hematology PIEZO1 dehydrated hereditary stomatocytosis hereditary xerocytosis β-thalassemia whole-genome sequencing |
| title | A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis |
| title_full | A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis |
| title_fullStr | A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis |
| title_full_unstemmed | A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis |
| title_short | A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis |
| title_sort | chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the piezo1 gene suspected of having dehydrated hereditary stomatocytosis |
| topic | PIEZO1 dehydrated hereditary stomatocytosis hereditary xerocytosis β-thalassemia whole-genome sequencing |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2025.2493014 |
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