Anales de la RANM

37 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 IMPLEMENTACIÓN DE LA NGS EN EL DIAGNÓSTICO DE HEMOGLOBINOPATÍAS Ropero P, et al. An RANM. 2026;143(01): 33 - 47 Figura 2. Tabla 1. Hemoglobinopatías estructurales en el gen HBB Nombre común Nomenclatura clásica Nomenclatura HGVS n HbS CD 6 GAG>GTG [Glu>Val] HBB: c.20A > T 139 HbC CD 6 GAG>AAG [Glu>Lys] HBB: c.19G > A 53 HbS/HbS CD 6 GAG>GTG [Glu>Val]/CD 6 GAG>GTG [Glu>Val] HBB: c.20A > T/ HBB: c.20A > T 17 Hb D-Los Ángeles CD 121 GAA>CAA [Glu>Gln] HBB: c.364G > C 15 Hb J-Baltimore CD 16 GGC>GAC [Gly>Asp] HBB: c.50G > A 8 HbS/HbC CD6 GAG>GTG [Glu>Val]/CD6 GAG>AAG [Glu>Lys] HBB: c.20A > T/ HBB: c.19G > A 4 Hb Hofu CD 126 GTG>GAG [Val>Glu] HBB: c.380T > A 4 Hb J-Chicago CD 76 GCT>GAT [Ala>Asp] HBB: c.230C > A 4 Hb O-Arab CD 121 GAA>AAA [Glu>Lys] HBB: c.364G > A 3 Hb Oviedo CD 38 ACC>GCC [Thr>Ala] HBB: c.115A > G 2 Hb J-Amiens CD 17 AAG>AAC [ Lys>Asn] HBB: c.54G > C 2 Hb C-Harlem CD 6 GAG>GTG [Glu>Val]/CD 73 GAT>AAT [Asp>Asn] HBB: c.[20A>T;220G > A] 2 HbC/IVS-I-5 (G>C) CD 6 GAG>AAG [Glu>Lys]/IVS-I-5 (G > C) HBB: c.19G > A/ HBB :c.92 + 5G > C 1 Hb D-Los Ángeles/ Hb Hamilton CD 121 GAA>CAA [Glu>Gln]7CD 11 GTT>ATT [Val>Ile] HBB: c.364G > C/ HBB: c.34G > A 1 Otras 12 Total 267 HGSV: Human Genome Variation Society