Article
Short insertion in a hemoglobin chain: Hb Esch, an unstable alpha1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68.
Blood cells, molecules & diseases - 1 Jan 2000
Préhu C, Groff P, Kalmes G, Golinska B, Riou J, Prome D, Richelme-David S, Kiger L, Ducrocq R, Wajcman H
Abstract excerpt
Hemoglobin (Hb) Esch, is an alpha1 variant, expressed at less than 5%, resulting from the duplication of the 12 nucleotides corresponding to CD65 through 68. The effect of this insertion is the repetition of the sequence Ala-Leu-Thr-Asn, which corresponds to the last turn of helix E. In this variant the presence of a one-turn elongated helix E causes instability and increased ligand affinity. Hb Esch was...
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