Resumen

IBARRA CORTES, Bertha; PEREA DIAZ, Francisco Javier  y  RIZO DE LA TORRE, Lourdes del Carmen. Hemoglobin Fannin-Lubbock I and II, two variants sharing a mutation. Salud(i)ciencia [online]. 2017, vol.22, n.5, pp.437-440. ISSN 1667-8682.

Abstract Hemoglobin (Hb) Fannin-Lubbock I ( beta119 (GH2), GGC> GAC, Gly> Asp) and Hb Fannin-Lubbock II (beta111 (G13), GTC> CTC, Val> Leu and beta119 (GH2), GGC > GAC, Gly> Asp), share the mutation at position 119, both abnormal hemoglobins have similar fast electrophoretic mobility due the Gly> Asp change. Hb Fannin-Lubbock, is classified in the group of unstable hemoglobins, without alteration in their affinity for oxygen; the mutation at amino acid 119 and that of amino acid 111 participate in the interaction of the alpha1beta1 chains, with important links in the stability of the molecule, so that both substitutions could affect the stability of the molecule. Initially the instability of the variant was attributed to mutation 111, however, our group confirmed that the mutation at amino acid 119 is responsible for the instability to the molecule. In this paper, we analyze the first observations of Hb Fannin-Lubbock in 1976 and in 1982, the demonstration of Hb Fannin-Lubbock II by DNA sequencing as well as the evidence of two different mutations by DNA analysis, the Hb Fannin-Lubbock I observed mainly in families of Mexican origin and Hb Fannin-Lubbock II in families of Spanish origin, we also present the hematological characteristics of both types and the indirect evidence that the Hb Fanin-Lubbock I observed in a Mexican family and in a Hindu family are associated with haplotypes suggesting that they arose from independent mutational events.

Palabras clave : Hb Fannin-Lubbock; Hb Fannin-Lubbock origin; Hb variants in Mexico; hbb gene mutations; hemoglobinopathies.

        · resumen en Español     · texto en Español     · Español ( pdf )