{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T15:00:28Z","timestamp":1783090828236,"version":"3.54.6"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":4089,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1995,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A term infant presented with mild cyanosis without evidence of hypoxia. Cardiopulmonary disease, polycythemia, and methemoglobinemia were excluded. Standard hemoglobin electrophoresis, including isoelectric focusing, were normal. However, by reversephase C<jats:sub>4<\/jats:sub> HPLC, an abnormal globin chain was detected. Analysis of tryptic peptides and amino acid sequence showed that the patient had an amino acid substitution Phe\u2192Ser at residue 41(C7) in the <jats:sup>G<\/jats:sup>\u03b3 chain. This was confirmed by DNA sequencing that demonstrated a point mutation at the expected site in exon 2 of the <jats:sup>G<\/jats:sup>\u03b3 gene, accounting for the appropriate change in the codon. This substitution, hemoglobin F\u2010Cincinnati, \u03b1<jats:sub>2<\/jats:sub> \u03b3<jats:sub>2<\/jats:sub> 41(C7) Phe\u2192Ser, not previously described, presumably decreased oxygen affinity of the hemoglobin. This substitution is very near the heme group and the \u03b1<jats:sub>1<\/jats:sub> \u03b2<jats:sub>2<\/jats:sub> interface and, hence, in a crucial area of the globin chain. Abnormalities of \u03b3 globin chains tend to be overlooked due to their transient presence and trivial clinical symptomatology, or due to \u201cin utero\u201d selection when physiologically abnormal. Mutant hemoglobins with altered oxygen affinity should be included in the differential diagnosis of newborns presenting with cyanosis, in whom all common causes have been excluded. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.2830490108","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T13:55:04Z","timestamp":1172066104000},"page":"43-47","source":"Crossref","is-referenced-by-count":18,"title":["Hemoglobin F\u2010Cincinnati, \u03b1<sub>2<\/sub><sup>G<\/sup>\u03b3<sub>2<\/sub> 41(C7) Phe \u2192 Ser in a newborn with cyanosis"],"prefix":"10.1002","volume":"49","author":[{"given":"Mudra","family":"Kohli\u2010Kumar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodore","family":"Zwerdling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald L.","family":"Rucknagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1080\/01483918408068849"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268008996236"},{"key":"e_1_2_1_4_2","unstructured":"StraussNM: In Ausubel FM Brent R Kingston RE Moore DD Smith JA Seidman JG Struhl K (eds): \u201cCurrent Protocols in Molecular Biology.\u201d New York 1990 2.2.1\u20132.2.3."},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(81)90302-0"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2448875"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.21.8889"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630269409002266"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630269108998857"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1542\/peds.83.5.734","article-title":"Mutant fetal hemoglobin causing cyanosis in a newborn","volume":"83","author":"Priest JR","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268008996225"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(12)61062-3"},{"key":"e_1_2_1_14_2","first-page":"43","volume-title":"Hemoglobin: Structure, Function, Evolution and Pathology","author":"Dickerson RE","year":"1983"},{"key":"e_1_2_1_15_2","first-page":"645","article-title":"Hemoglobin Mequon \u03b241(C7) phenylalanine\u2192tYrosine","volume":"48","author":"Burkert LB","year":"1976","journal-title":"Blood"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/216663a0"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106738"},{"key":"e_1_2_1_18_2","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/S0021-9258(19)40204-4","article-title":"Hemoglobin Warsaw (Phe\u03b242(CD1)\u2192vAl), an unstable variant with decreased oxygen affinity: characterization of its synthesis, functional properties and structure","volume":"265","author":"Honig GR","year":"1990","journal-title":"J Biol Chem"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830490108","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830490108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T16:27:18Z","timestamp":1698337638000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830490108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,5]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,5]]}},"alternative-id":["10.1002\/ajh.2830490108"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830490108","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,5]]}}}