Prevalence of α-chain variants at birth

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Hemoglobin electrophoresis of cord blood from 4,499 newborns was performed as part of a sickle cell disease detection program. Although the expected frequency of the genes for hemoglobins S and C were observed, six newborns (five kindreds) were heterozygous for an α G Hb. In four kindreds, the α chain variant was identified as Hb G-Philadelphia. In each case, heterozygosity for this Hb was manifested at birth by the presence of Hb F/G (α2 (G)γ2), a slow Hb migrating between the positions of Hbs S and C on cellulose acetate. In some newborns, Hb G (α2(G)β2) was also detectable, so that cord bloods had four hemoglobin components: F, F/G, A, and G. The prevalence of Hb G-Philadelphia in this population sample is higher than that usually reported for black Americans and may represent a founder effect. Comprehensive screening of cord blood hemoglobins should use electrophoresis on alkaline media as the primary testing procedure because it allows recognition of most variants, such as the D (G) hemoglobins. Reliable identification of Hbs S and C requires citrate agar electrophoresis as a confirmatory test.

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