{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:34:59Z","timestamp":1761060899425},"reference-count":13,"publisher":"American Society of Hematology","issue":"4","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2000,2,15]]},"abstract":"<jats:p>Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed.<\/jats:p>","DOI":"10.1182\/blood.v95.4.1499.004k02_1499_1501","type":"journal-article","created":{"date-parts":[[2019,10,12]],"date-time":"2019-10-12T19:26:32Z","timestamp":1570908392000},"page":"1499-1501","update-policy":"http:\/\/dx.doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":12,"title":["Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia"],"prefix":"10.1182","volume":"95","author":[{"given":"El\u0131\u0301sio","family":"Costa","sequence":"first","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]},{"given":"Jose\u0301 Manuel","family":"Cabeda","sequence":"additional","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]},{"given":"Emilia","family":"Vieira","sequence":"additional","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]},{"given":"Rui","family":"Pinto","sequence":"additional","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]},{"given":"Susana Aires","family":"Pereira","sequence":"additional","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]},{"given":"Leonor","family":"Ferraz","sequence":"additional","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]},{"given":"Rosa\u0301rio","family":"Santos","sequence":"additional","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]},{"given":"Jose\u0301","family":"Barbot","sequence":"additional","affiliation":[{"name":"From the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital de Crianc\u0327as Maria Pia, Porto; the Servic\u0327o de Hematologia Cl\u0131\u0301nica, Hospital Geral de Santo Anto\u0301nio, Porto; the Unidade de Gene\u0301tica Molecular do Instituto de Gene\u0301tica Me\u0301dica Doutor Jacinto de Magalha\u0303es, Porto; the Departamento Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal."}]}],"member":"234","reference":[{"key":"2020021216081553500_B1","first-page":"704","article-title":"Glucose-6-phosphate dehydrogenase deficiency and hemolytic 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