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, Table 2. Insertion/deletion of a sequence of several residues in the a-globin chain. Hemoglobin Name Inserted Sequence Deleted Sequence Refs
, Insertions Choisy (normal in heterozygotes) HBA1: c.157_180del 52(E1)-59(E8)Ser-Ala-Gln-Val-Lys-Gly-His-Gly? this study KSVGH a (normal in heterozygotes) HBA1: c.171_172insAGCCACGGCTCTGCCCAAGTTAAG 49(CE7)-56(E5)Ser-His-Gly-Ser-Ala-Gln-Val-Lys
, heterozygotes) HBA1: c.151_152insGGAGCC 49(CE7)-51(CE9)Arg-Ser-His
, HBA1: c.207_208insGCGCTGACCAAC 64(E13)-65(E14)Ale-Leu-Thr-Asn (duplicated sequence)
, heterozygotes) HBA1: p.Leu87_His88insSerAspLeu (or HBA2) 82(F3)-83(F4)Leu-Ser-Asp
, Zaïre (mildly thalassemic) HBA1: p.Glu117_Phe118insHisLeuProAlaGlu (or HBA2) 111(G18)-112(G19)His-Leu-Pro-Ala-Glu-Phe
, heterozygotes) HBA1: p.Thr119_Pro120insGlu PheThr (or HBA2) 118(H1)-119(H2)Glu-Phe-Thr
, Deletions Souli (found in association with an a-thal mutation) HBA2: c.40_45delGCCTGG 13(A11)-14(A12)Ala-Trp!0 (GCC gcc tgg GGT
, heterozygotes) HBA2: c.69_77delCGAGTATGG 22(B3)-25(B6)gly-glu-tyr-Gly!0 (-C GAG TAT GG) (the three missing residues are located in an interhelical loop
, HBA2: c.146_163delTGAGCCACGGCTCTGCCC 48(CE6)-54(E3)Leu-Ser-His-Gly-Ser-Ala-Gln!0
, Goya (mildly unstable) HBA2: c.149_172del 52(E1)-59(E8)Ser-Ala-Gln-Val-Lys-Gly-His-Gly
, mildly unstable) HBA1: c.157_180del (or HBA2) 52(E1)-59(E8)Ser-Ala-Gln-Val-Lys-Gly-His-Gly
, 42 bp) HBA2: c.190_231del 63(E12)-76(EF5)Ala-Asp-Ala-Leu-Thr-Asn-Ala-Val-Ala-His-Val-Asp-Asp-Met!0, pp.63-76
, Lleida (mildly unstable, thalassemic variant) HBA2: c
, Kaohsiung Veterans General Hospital
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, novel hemoglobin variant found on the a1 Chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys)
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