[Fannin-Lubbock II hemoglobin [beta111(G13)Val -> Leu y beta119(GH2)Gly -> Asp]: description of 4 new cases].

BACKGROUND AND OBJECTIVE

The aim of this work is the molecular description of a 4 new cases of the hemoglobin Fannin-Lubbock II, which presents the substitution of 2 amino acids in the same beta globin chain.

PATIENT AND METHOD

Four cases belonging to 3 families all of white race and from Spain are studied. The molecular analysis was done with the sequence of the products of amplification for polymerase chain reaction of the beta globin gene.

RESULTS

The molecular study demonstrated the mutation GTC -> CTC in the codon 111 that determines a change of valine for leucine and the mutation GGC -> GAC in the codon 119 that determines a change of glycine for aspartic acid, both in heterozygote state.

CONCLUSIONS

Until the present time 17 hemoglobin variants have been described with 2 substitutions of amino acids in the beta globin chain. The hemoglobin Fannin-Lubbock II had been described in 5 Spanish families; therefore, the communication of these new cases suggests it could be a haemoglobin variant relatively frequent and circumscribed to our population.