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


METHODS
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.
González
F Ataúlfo
FA
Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, España. fgonzalezf@aehh.org
Ropero
Paloma
P
Arrizabalaga
Beatriz
B
García
Pilar
P
Cela
Elena
E
Villegas
Ana
A
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis; D006455:Hemoglobins, Abnormal; D006801:Humans; D008297:Male; D013030:Spain; D044465:White People
D006455:Hemoglobins, Abnormal; C032030:hemoglobin Fannin-Lubbock