Anales de la RANM

40 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 Tabla 3. Alfa talasemia. Mutaciones en los genes HBA1 y HBA2 Nomenclatura clásica Nomenclatura HGVS Fenotipo n -3.7α/αα NG_000006.1: g.34247_38050del α⁺ 198 -3.7α/-3.7α NG_000006.1: g.34247_38050del/ NG_000006.1: g.34247_38050del α⁺/α⁺ 67 --(SEA) NG_000006.1: g.26264_45564del19301 α 0 14 α-5nt HBA2: c.95+2_95+6delTGAGG α⁺ 11 -22 C>T HBA2: c.-59C>T VUS 7 --(FIL) NC_000016.10: g.151641_182316del α 0 6 Polimorfismo Africano NG_000006: g.[34247T>G;34311delGinsCTCGGCCC] 5 ααα(anti-3.7) NG_000006.1: g.34247_38050dup 5 -3.7α/-4.2α NG_000006.1: g.34247_38050del/ NC_000016.10: g.169818_174075del α⁺/α⁺ 4 --(HS40) NC_000016.10: g.56407_153678del α 0 3 -4.2α/αα NC_000016.10: g.169818_174075del α⁺ 3 44.6 kb deleción NC_000016.10: g.144215_188841del α 0 2 -5.2α/αα α 0 2 -3.7α/α-5nt NG_000006.1: g.34247_38050del/ HBA2: c.95+2_95+6delTGAGG α⁺/α⁺ 2 3' UTR +832 G>A HBA2: c.*107A>G 2 --(KOL) NC_000016.10: g.(151719_151746)_(185067_185093)del α 0 1 192 kb deleción α 0 1 212 kb deleción α 0 1 134 kb deleción α 0 1 --(MED 1) NG_000006.1: g.(23641_23662)_(41183_41203)del α 0 1 -3.7α/CDI A>G NG_000006.1: g.34247_38050del/ HBA2:c.1A>G α⁺/α⁺ 1 -3.7α/--(HS40) NG_000006.1: g.34247_38050del/ NC_000016.10: g.56407_153678del α⁺/α 0 1 -3.7α/del-- NG_000006.1: g.34247_38050del α⁺/α 0 1 -3.7α/Hb Koya Dora NG_000006.1: g.34247_38050del/HBA2:c.428A>C α⁺/α⁺ 1 -3.7α/Hb G-Philadelphia NG_000006.1:g.[34099C>R;34247_38050del] α⁺ 1 -3.7α/Hb Groene Hart NG_000006.1: g.34247_38050del/CD119CCT>TCT [Pro>Ser] α⁺/α⁺ 1 -3.7α/Hb Hasharon NG_000006.1: g.34247_38050del/ HBA2 :c.142G>C α⁺/ 1 α-5nt/Hb Taybe HBA2: c.95+2_95+6delTGAGG HBA1 :c.118_120del α⁺α⁺ 1 -3.7α/Polimorfismo Africano NG_000006.1: g.34247_38050del/ NG_000006: g. [34247T>G;34311delGinsCTCGGCCC] α⁺ 1