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A New, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [Gγ118(GH1)Phe→Leu]

Manca, Laura and Cherchi, Laura and De Rosa, Maria Cristina and Giardina, Bruno and Masala, Bruno Lucio (2000) A New, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [Gγ118(GH1)Phe→Leu]. Hemoglobin, Vol. 24 (1), p. 37-44. eISSN 1532-432X. Article.

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DOI: 10.3109/03630260009002272


Hb F-Calabria [Gγ118(GH1)Phe→Leu] is a new fetal hemoglobin variant that was found during routine screening for abnormal hemoglobins in a newborn of Calabrian (Southern Italy) ancestry. The variant chain was identified (acid urea gel electrophoresis of dissociated globin chains in the presence of Triton X-100, and by reversed phase high performance liquid chromatography) as a slightly hydrophilic Gγ chain. Sequencing of the polymerase chain reaction-amplified exon 3 of the Gγ-globin gene demonstrated the TTC→CTC mutation at codon 118 leading to the Phe→Leu conservative substitution at position GH1. A molecular modeling study supports that the variant might not have clinical implications. This is the 40th example of a Gγ chain variant.

Item Type:Article
ID Code:3059
Uncontrolled Keywords:Hb F-Calabria [Gγ118(GH1)Phe→Leu], fetal hemoglobin, polymerase chain reaction, Southern Italy
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
Publisher:Taylor & Francis
Deposited On:28 Sep 2009 13:29

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