Haemoglobin Saki α2β214 Leu → Pro (A11) structure and function

Thalassemia intermedia caused by heterozygosity for both β‐thalassemia and hemoglobin saki [β14 (a11) leu→pro]

“…It was therefore possible in her case to prepare pure Hb-Saki for detailed analysis, and it was reported that this mutant hemoglobin had an electrophoretic mobility and an isoelectric pH identical to Hb-A and had a normal oxygen dissociation curve, cooperativity, and Bohr effect. Its only abnormal attribute was instability in vitro (17). The present study confirms these results in a heterozygote for HbSaki and Hb-A, who is clinically not anemic and in whom there was no evidence of hemolysis in vivo.…”

“…These data indicate a Leu+Pro substitution which concerns the only leucyl residue in this peptide, and thus that which occupies position 14 of the oA-chain and position 11 of the A helix of this chain. The same variant has recently been discovered by Beuzard et al (17) and was named Hb-Saki. The globin used for the present study was prepared from the hemolysate of the propositus with Hb-Sakilo-thalassemia.…”

Two New δ-Globin Gene Variants: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A2-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]

“…The proband was a Greek Cypriot patient who did not synthesize any δ-globin chain (7). As for the β-globin gene, the counterpart of Hb A 2 -Saint-Etienne is the unstable Hb Saki [β14(A14)Leu!Pro (CTG>CCG)] variant (8). Considering these data and our phenotypic observations, we assume that Hb A 2 -Saint-Etienne should be an unstable δ-globin variant.…”