J.Ye. Leonova

Hb ananosa or α2111(G18)Ala → Valβ (α2 Mutation) and Hb mulhacen or α2123(H6)Ala → Serβ2 (αl Mutation) are two silent stable variants detected by sequencing of amplified dna

We have identified silent amino acid substitutions in two alpha chain variants present in families from Iowa, USA, and Granada, Spain. Both involve an alanine residue in the core peptide, namely Ala-->Val at position 111 (codon change in the alpha 2 gene; GCC->GTC; Hb Anamosa) and Ala-->Ser at position 123 (codon change in the alpha 1 gene; GCC-->TCC; Hb Mulhacen). The two variants are stable. Sequencing of the amplified alpha 2- and alpha 1-globin genes greatly facilitated the characterization of the two variants.

Sickle Cell Anemia Identified in a Multiple-Transfused Patient through Analysis of mRNA with an RT-PCR-Based Technique

We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient with severe kidney disease using a new reverse-transcription polymerase chain reaction (RT-PCR) technique with mRNA as starting template. The procedure requires considerably less time than sequencing of genomic DNA and is recommended for use in the diagnosis of Hb S and other hemoglobinopathies.