Hb S-San Martin: a new sickling hemoglobin with two amino acid substitutions [β6(A3)Glu→Val;β105(G7)Leu→Pro] in an Argentinean family.
A new sickling hemoglobin (Hb) detected in an Argentinean family from San Martín, Buenos Aires, Argentina, is hereby described. Two mutations were identified on the same β-globin gene resulting in a new variant named Hb San Martin. One mutation was found on exon 1, corresponding to Hb S [β6Glu→Val, GAG>GTG] and the second one on exon 3 at β105(G7)Leu→Pro, CTC>CCC. The replacement of leucine by proline will likely impair the structure breaking helix G and causing instability of the molecule and the clinical manifestations typical of unstable Hbs. The mutation at β105 seemed to be a de novo one in our patients, arising on a previously mutated gene, due to the fact that Hb S is the most frequent structural variant.
Feliu-Torres
Aurora
A
Servicio de Hematología-Oncología, Hospital Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. afeliutorres@yahoo.com
Eberle
Silvia Eandi
SE
Bragós
Irma M
IM
Sciuccati
Gabriela
G
Ojeda
Mara J
MJ
Calvo
Karina L
KL
Voss
María E
ME
Pratti
Arianna F
AF
Milani
Angela C
AC
Bonduel
Mariana
M
Díaz
Lilian
L
Noguera
Nélida I
NI
D019943:Amino Acid Substitution; D001118:Argentina; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D017433:Protein Structure, Secondary; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C556240:hemoglobin S-San Martin