{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T14:06:59Z","timestamp":1784124419088,"version":"3.55.0"},"reference-count":16,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T00:00:00Z","timestamp":1695600000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"First People\u2019s Hospital of Huai\u2019an","award":["YLCT202001"],"award-info":[{"award-number":["YLCT202001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>A male infant of Han descent, with a G1P1 mother and gestational age of 40+4 weeks, was born via cesarean section owing to his mother having pregnancy complications, including premature rupture of membranes, chorioamnionitis, and gestational diabetes. On the first day after birth, routine blood examination showed that his total red blood cells count was 2.32 \u00d7 1012\/L, hemoglobin count was 77 g\/L, and C-reactive protein count was 48.99 mg\/L. After receiving an anti-infection treatment for 10 days and two blood transfusions (100 mL in total), he was discharged from a neonatal intensive care unit (NICU). Accessory examinations showed that reticulocytes in the peripheral blood were significantly increased, the morphology of red blood cells was normal, and all hemolysis-related examinations were normal; bone marrow examinations showed that the proliferation of the red blood cell system was low and serum ferritin and vitamin B12 levels were elevated. Because of the unexplained hemolysis, a whole-exome sequencing examination was performed. The results showed a hemizygous variant of the ATP11C gene (c.3136a&gt;t\/p ile 1046phe) and a frame-shift variant of the ANK1 gene (c.937del\/pala313 leufs*19). After a six-month follow-up, the serum ferritin and vitamin B12 levels had gradually decreased to normal levels, and hemoglobin and reticulocyte values were 97 g\/L and 7.17%, respectively, in the peripheral blood. No splenomegaly was found in physical examination.<\/jats:p>","DOI":"10.3390\/children10101600","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T03:53:00Z","timestamp":1695700380000},"page":"1600","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Case of Congenital Hemolytic Anemia with ATP11C and ANK1 Variants"],"prefix":"10.3390","volume":"10","author":[{"given":"Wei","family":"Xu","sequence":"first","affiliation":[{"name":"The Department of Pediatrics, The Affiliated Huaian No.1 People\u2019s Hospital of Nanjing Medical University, No 1 Huanghe Road, Huaiyin District, Huaian 223300, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengmeng","family":"Ma","sequence":"additional","affiliation":[{"name":"The Department of Neonatology, The Affiliated Huaian No.1 People\u2019s Hospital of Nanjing Medical University, No 1 Huanghe Road, Huaiyin District, Huaian 223300, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sai","family":"Zhao","sequence":"additional","affiliation":[{"name":"The Department of Neonatology, The Affiliated Huaian No.1 People\u2019s Hospital of Nanjing Medical University, No 1 Huanghe Road, Huaiyin District, Huaian 223300, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufang","family":"Yuan","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics, The Affiliated Huaian No.1 People\u2019s Hospital of Nanjing Medical University, No 1 Huanghe Road, Huaiyin District, Huaian 223300, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaofang","family":"Tian","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics, The Affiliated Huaian No.1 People\u2019s Hospital of Nanjing Medical University, No 1 Huanghe Road, Huaiyin District, Huaian 223300, China"},{"name":"The Department of Neonatology, The Affiliated Huaian No.1 People\u2019s Hospital of Nanjing Medical University, No 1 Huanghe Road, Huaiyin District, Huaian 223300, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/j.mcna.2016.09.008","article-title":"Congenital Hemolytic Anemia","volume":"101","author":"Haley","year":"2017","journal-title":"Med. Clin. N. Am."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1073\/pnas.1013642108","article-title":"Identification of a gain-of-function mutation in a Golgi P\u2014Type ATPase that enhances Mnp efflux and protects against toxicity","volume":"108","author":"Mukhopadhyay","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/ni.2024","article-title":"Flippin\u2019lipids","volume":"12","author":"Clark","year":"2011","journal-title":"Nat. Immunol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1159\/000525054","article-title":"A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis","volume":"145","author":"Li","year":"2022","journal-title":"Acta Haematol."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Huang, T.L., Sang, B.H., Lei, Q.L., Song, C.Y., Lin, Y.B., Lv, Y., Yang, C.H., Li, N., Yang, Y.H., and Zhang, X.W. (2019). A de novo ANK1 mutation associated to hereditary spherocytosis: A case report. BMC Pediatr., 19.","DOI":"10.1186\/s12887-019-1436-4"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1182\/asheducation-2015.1.392","article-title":"Diagnosis and management of rare congenital nonimmune hemolytic disease","volume":"2015","author":"Gallagher","year":"2015","journal-title":"Hematology. Am. Soc. Hematology. Educ. 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Pediatr."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/ni.2012","article-title":"The P4-type ATPase Atpl lc is essential for B lymphopoiesis in adult bone marrow","volume":"12","author":"Siggs","year":"2012","journal-title":"Nat. Immunol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2011","DOI":"10.1073\/pnas.98.4.2011","article-title":"Targeted inactivation of sister of P-glycoprotein gene (spgp)in mice results in nonprogressive but persistent intrahepatic cholestasis","volume":"98","author":"Wang","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"13991","DOI":"10.1111\/jcmm.16010","article-title":"Reduction in flippase activity contributes to surface presentation of phosphatidylserine in human senescent erythrocytes","volume":"24","author":"Seki","year":"2020","journal-title":"J. Cell Mol. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"19531","DOI":"10.1074\/jbc.C114.570267","article-title":"Mice deficient in the putative phospholipid flippase ATP11C exhibit altered erythrocyte shape, anemia, and reduced erythrocyte life span","volume":"289","author":"Yabas","year":"2014","journal-title":"J. Biol. Chem."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s00277-021-04696-5","article-title":"The ratio of ATP11C\/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia","volume":"101","author":"Domingos","year":"2022","journal-title":"Ann. 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