{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T22:47:26Z","timestamp":1762642046450,"version":"3.37.3"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005363","name":"Universidad de Buenos Aires","doi-asserted-by":"publisher","award":["20020100200073","20020120200092BA","112\u2010200801\u201002849"],"award-info":[{"award-number":["20020100200073","20020120200092BA","112\u2010200801\u201002849"]}],"id":[{"id":"10.13039\/501100005363","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002923","name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","doi-asserted-by":"publisher","award":["1004\/11"],"award-info":[{"award-number":["1004\/11"]}],"id":[{"id":"10.13039\/501100002923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in\u2010frame deletions, leading to \u03b2\u2010globin variants in pediatric patients in Argentina. The <jats:italic><jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content><\/jats:italic> gene of the probands and their parents was sequenced, and other markers of globin chain imbalance were analyzed. Several structural analyses were performed, and the effect of the mutations on the globin chain stability was analyzed. In Hb <jats:styled-content style=\"fixed-case\">JC<\/jats:styled-content>\u2010Paz, <jats:italic><jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content>:<\/jats:italic>c.29_37del<jats:styled-content style=\"fixed-case\">CTGCCGTTA<\/jats:styled-content> (p.Ala10_Thr12del), detected in an Argentinean boy, one \u03b1\u2010helix turn is expected to be lost. In Hb Tavapy, <jats:italic><jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content><\/jats:italic>:c.182_187del<jats:styled-content style=\"fixed-case\">TGAAGG<\/jats:styled-content> (p.Val60_Lys61del), the deleted residues are close to distal histidine (His63) in the heme pocket. Both mutations are predicted to have a destabilizing effect. The development of computational structural models and bioinformatics algorithms is expected to become a useful tool to understand the impact of the mutations leading to dominant thalassemia.<\/jats:p>","DOI":"10.1111\/ejh.13029","type":"journal-article","created":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T17:31:24Z","timestamp":1515605484000},"page":"529-535","source":"Crossref","is-referenced-by-count":4,"title":["Two novel unstable hemoglobin variants due to in\u2010frame deletions of key amino acids in the \u03b2\u2010globin chain"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8812-714X","authenticated-orcid":false,"given":"Karen G.","family":"Scheps","sequence":"first","affiliation":[{"name":"Facultad de Farmacia y Bioqu\u00edmica Departamento de Microbiolog\u00eda, Inmunolog\u00eda, Biotecnolog\u00eda y Gen\u00e9tica\/C\u00e1tedra de Gen\u00e9tica Universidad de Buenos Aires  Ciudad Aut\u00f3noma de Buenos Aires Argentina"},{"name":"Instituto de Inmunolog\u00eda Gen\u00e9tica y Metabolismo (INIGEM) CONICET\u2010Universidad de Buenos Aires  Ciudad Aut\u00f3noma de Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia Anah\u00ed","family":"Hasenahuer","sequence":"additional","affiliation":[{"name":"Departamento de Ciencia y Tecnolog\u00eda Universidad Nacional de Quilmes  Bernal, Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo","family":"Parisi","sequence":"additional","affiliation":[{"name":"Departamento de Ciencia y Tecnolog\u00eda Universidad Nacional de Quilmes  Bernal, Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9ctor M.","family":"Targovnik","sequence":"additional","affiliation":[{"name":"Facultad de Farmacia y Bioqu\u00edmica Departamento de Microbiolog\u00eda, Inmunolog\u00eda, Biotecnolog\u00eda y Gen\u00e9tica\/C\u00e1tedra de Gen\u00e9tica Universidad de Buenos Aires  Ciudad Aut\u00f3noma de Buenos Aires Argentina"},{"name":"Instituto de Inmunolog\u00eda Gen\u00e9tica y Metabolismo (INIGEM) CONICET\u2010Universidad de Buenos Aires  Ciudad Aut\u00f3noma de Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliana","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Secci\u00f3n Hematolog\u00eda y Oncolog\u00eda Servicio de Pediatr\u00eda Hospital Nacional A. 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