Anales de la RANM

41 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 IVS-1-nt1 (G>T) HBA2: c.95+1G>T α⁺ 1 IVS-1-nt114 (G>T) HBA2 :c.96-4G>T α⁺ 1 IVS-1-nt117 (G>A) HBA2: c.96-1G>A α⁺ 1 IVS-1-nt5 (G>A) HBA2: c.95+5 G>A α⁺ 1 3’ UTR + 58 (T>C) HBA2: c.*58T>C α⁺ 1 IVS-2-nt142 (G>A) HBA2: c.301-1G>A α⁺ 1 Poly A (AATAAA>AATAAG) HBA2: c.*94A>G α⁺ 1 CD23 (GAG>TAG) HBA1: c.70G>T α⁺ 1 IVS-2-nt1 (G>A) HBA1: c.300+1G>A α⁺ 1 CD82/83 (-CCTG) HBA2: c.249_252del α⁺ 1 αααanti-3.7/--(FIL) NG_000006.1: g.34247_38050dup/ NC_000016.10: g.151641_182316del α 0 1 αααanti-3.7/44.6 kb deleción NG_000006.1: g.34247_38050dup/ NC_000016.10: g.144215_188841del α 0 1 αααanti-3.7/-4.2α NG_000006.1: g.34247_38050dup/ NC_000016.10: g.169818_174075del α⁺ 1 Total 358 Tabla 4. Hemoglobinopatías estructurales en los genes HBA1 y HBA2 Nombre común Nomenclatura clásica Nomenclatura HGVS n Hb Groene Hart CD 119 CCT>TCT [Pro>Ser] HBA1: c.358C>T 4 Hb Tunis-Bizerte CD 129 CTG>CCG [Leu>Pro] NM_000558.3(HBA1):c.389T>C 3 Hb Burgos CD 64 GAC>AAC [Asp>Asn] HBA1: c.193G>A 2 Hb J-Paris I CD 12 GCC>GAC [Ala>Asp] HBA2: c.38C>A 2 Hb Gurtubay CD 33 TTC>GTC [Phe>Val] HBA1: c.100T>G 2 Hb Agrinio CD 29 CTG>CCG [Leu>Pro] HBA2 :c.89T>C 1 Hb J-Biskra CD 52-59 (-24bp) HBA2: c.157_180del 1 Hb Setif CD 94 GAC>TAC [Asp>Tyr] HBA2: c.283G>T 1 Hb Riccarton CD 51 GGC>AGC [Gly>Ser] HBA1: c.154G>A 1 Hb J-Medellín CD 22 GGC>GAC [Gly>Asp] HBA2: c.68G>A 1 Hb Iberia CD 104 TGC>CGC [Cys>Arg] HBA2: c.313T>C 1 Hb Hasharon CD 47 GAC>CAC [Asp>His] HBA2: c.142G>C 1 CD28 (GCC>GGC) CD28 GCC>GGC [Ala>Gly] HBA2: c.86C>G 1 Total 21