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Statistical analyses were performed to compare and analyze the red blood cell (RBC), hemoglobin (HB), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) data between and within groups based on different mutations and age groups (&lt;\u200914 and\u2009\u2265\u200914\u00a0years).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 34 HS patients were included in this study, comprising 22 children (64.70%) and 12 adults (35.30%). The probands who underwent genetic testing were derived from 34 unrelated families. Thirty-two variants were tested and 9 of them are novel. Eighteen cases had\n                      <jats:italic>ANK1<\/jats:italic>\n                      variants, 15 had\n                      <jats:italic>SPTB<\/jats:italic>\n                      variants, and 1 had\n                      <jats:italic>SLC4A1<\/jats:italic>\n                      variant. 25 patients performed core family members underwent genetic testing, 17 (68.0%, 17\/25) were de novo, 5 (20.0%, 5\/25) were maternally inherited, and 3 (12.0%, 3\/25) were paternally inherited.\n                      <jats:italic>ANK1<\/jats:italic>\n                      -HS patients exhibited more severe anemia compared to cases with\n                      <jats:italic>SPTB<\/jats:italic>\n                      -HS, showing lower levels of RBC and HB (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05). Anemia was more severe in patients diagnosed in childhood than in those diagnosed in adulthood. Within the\n                      <jats:italic>ANK1<\/jats:italic>\n                      -HS group, MCH levels in adult patients was significantly higher than those in children (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05), while there were no significant differences in RBC, HB, MCV, and MCHC levels between two groups. Adult patients with\n                      <jats:italic>SPTB<\/jats:italic>\n                      -HS had significantly higher levels of RBC, HB, and MCH than pediatric patients (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05), while MCV and MCHC levels showed no significant statistical differences.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study conducted a comparative analysis of phenotypic characteristics and molecular genetics in adult and pediatric patients diagnosed with HS, confirming that pediatric\n                      <jats:italic>ANK1<\/jats:italic>\n                      -HS patients exhibit a more severe anemic phenotype compared to\n                      <jats:italic>SPTB<\/jats:italic>\n                      -HS patients, while the severity of HS in adults does not significantly differ between different causative genes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03290-y","type":"journal-article","created":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T22:02:07Z","timestamp":1721772127000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis"],"prefix":"10.1186","volume":"19","author":[{"given":"Chongjun","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixin","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfei","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianyun","family":"Ao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuehong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Longwang","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhong","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongjin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7559-637X","authenticated-orcid":false,"given":"Zhenjiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"issue":"1","key":"3290_CR1","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1111\/j.1365-2141.2011.08921.x","volume":"156","author":"PH Bolton-Maggs","year":"2012","unstructured":"Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ. 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Written informed consent to participate in this study was provided by the participants\u2019 legal guardian\/next of kin. The studies involving human participants were reviewed and approved by Ethics Committee of Jiangxi Provincial Children's Hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All experiments were performed in accordance with relevant guidelines and regulations (such as the Declaration of Helsinki). Written informed consent to participate in this study was provided by the participants\u2019 legal guardian\/next of kin.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that there is no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"278"}}