{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:32:46Z","timestamp":1786649566019,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:p>A 3-year-old Tanzanian female presented with severe hemolytic anemia of unknown etiology, necessitating multiple red blood cell transfusions. The patient was found to have glucose-6-phosphate dehydrogenase (G6PD) deficiency A- and a heterozygous Piezo-type mechanosensitive ion channel component 1 (PIEZO1) mutation (2744A&gt;G, N915S). This case identifies a novel PIEZO1 mutation implicated in erythrocyte channelopathies occurring in conjunction with an X-linked enzymopathy in a female patient. This underscores the importance of keeping X-linked disorders in the differential diagnosis of hemolytic anemia in females, as well as presents the possibility for novel coexisting mutations to augment the phenotype.<\/jats:p>","DOI":"10.4103\/aam.aam_29_24","type":"journal-article","created":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T03:00:38Z","timestamp":1723604438000},"page":"743-747","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A&gt;G, N915S) Presenting with Severe Hemolytic Anemia"],"prefix":"10.4103","volume":"23","author":[{"given":"Nicholas John","family":"Fustino","sequence":"first","affiliation":[{"name":"Division of Pediatric Hematology-Oncology, Blank Children\u2019s Hospital\/Unity Point Health, Des Moines, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raven","family":"Beck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Blank Children\u2019s Hospital\/Unity Point Health, Des Moines, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,8,13]]},"reference":[{"key":"R1-20260427","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1182\/blood.2019000944","article-title":"Glucose-6-phosphate dehydrogenase de\ufb01ciency","volume":"136","author":"Luzzatto","year":"2020","journal-title":"Blood"},{"key":"R2-20260427","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/MOH.0000000000000706","article-title":"PIEZO1, sensing the touch during erythropoiesis","volume":"29","author":"Caulier","year":"2022","journal-title":"Curr Opin 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