A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [(G)gamma 118(GH1)Phe -> Leu]

作者：Manca L; Cherchi L; De Rosa MC; Giardina B; Masala B^*

来源：Hemoglobin, 2000, 24(1): 37-44.

DOI：10.3109/03630260009002272

Hb F-Calabria [(G)gamma 118(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 (G)gamma chain. Sequencing of the polymerase chain reaction-amplified exon 3 of the (G)gamma-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 40(th) example of a (G)gamma chain variant.

• 出版日期2000