{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T17:11:46Z","timestamp":1790356306834,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T00:00:00Z","timestamp":1367193600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":855,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:label\/><jats:p>Fetal hemoglobin may be slightly or significantly elevated in post\u2010natal life due to a number of causes. We report two novel mutations found on the promoter of the A\u03b3 gene and summarize all common and rare determinants associated with hereditary persistence of fetal hemoglobin (<jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content>) described thus far. Hematological and molecular analysis of the A\u03b3 globin gene in two cases of <jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content>. Comparison of the novel cases with all those described in the literature. We have found two novel mutations in three Italian patients with HbF values between 5.9% and 6.5% without an elevated HbA<jats:sub>2<\/jats:sub> and with normal hemoglobin parameters. In two probands (mother and son), a \u2212197 C&gt;T transition was observed, while in a single individual, a \u2212113 A&gt;G transition was present on the distal <jats:styled-content style=\"fixed-case\">CCAAT<\/jats:styled-content> box of the A\u03b3 gene. As no other abnormalities were present in both \u03b3\u2010gene promoters and the changes are located on regulatory sequences, we may conclude that these mutations are responsible for the <jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content> phenotype shown by the carriers. The laboratory should be able to discriminate between elevated HbF due to artifacts or to serious causes including bone marrow malignancies, aplastic anemia, and \u03b2\u2010thalassemia major or recessive traits such as \u03b2\u2010thalassemia minor, \u03b4\u03b2\u2010thalassemia, or nonpathological conditions induced by mutations or polymorphisms of the \u03b3\u2010gene promoters that may even be beneficial when present in patients with thalassemia major or sickle cell disease and, in particular, when these patients are treated with hydroxyurea.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12094","type":"journal-article","created":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T11:35:58Z","timestamp":1367235358000},"page":"13-19","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known \u03b3\u2010 gene mutations associated with hereditary persistence of fetal hemoglobin"],"prefix":"10.1111","volume":"36","author":[{"given":"A.","family":"Amato","sequence":"first","affiliation":[{"name":"ANMI Onlus Centro Studi Microcitemie Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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