RESUMEN
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.
Asunto(s)
Hemoglobinas Anormales , Adulto , Preescolar , Femenino , Hemoglobinopatías/diagnóstico , Humanos , Masculino , España , Población BlancaRESUMEN
Fundamento y objetivo: El objetivo de este trabajo es la caracterización molecular de 4 nuevos casos de hemoglobina Fannin-Lubbock II, que presenta la sustitución de 2 aminoácidos en la misma cadena beta de globina. Pacientes y método: Se han estudiado 4 casos pertenecientes a 3 familias de raza blanca y origen español. El análisis molecular se realizó con la secuenciación de los productos de amplificación por reacción en cadena de la polimerasa del gen beta. Resultados: El estudio molecular demostró la mutación GTC -> CTC en el codón 111, que determina un cambio de valina por leucina, y la mutación GGC -> GAC en el codón 119, que determina un cambio de glicina por aspártico, ambas en estado heterocigoto. Conclusiones: Hasta la actualidad se han descrito 17 hemoglobinopatías con 2 sustituciones de aminoácidos en la cadena beta de globina. La hemoglobina Fannin-Lubbock II había sido descrita en 5 familias españolas, por lo que la comunicación de estos nuevos casos indica que podría tratarse de una hemoglobinopatía relativamente frecuente y circunscrita a nuestra población
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 b 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 b 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 subs-titutions of amino acids in the b 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