| HBB gene mutation |
|
|
|
|
Initiation codon (ATG>AGG); c.2T>G (p.Met1Arg) |
5 |
Korea 5 |
Korea 5 |
|
Codon 26 (GAG>AAG); c.79G>A (p.Glu27Lys); Hb E |
4 |
Korea 4 |
Cambodia 2, Vietnam 1, and Philippines 1 |
|
Codon 41/42 (-CTTT); c.126_129delCTTT (p.Phe42fs) |
3 |
Korea 3 |
Korea 1, Vietnam 1, and Thailand 1 |
|
Codon 17 (AAG>TAG); c.52A>T (p.Lys18Ter) |
3 |
Korea 3 |
Korea 3 |
|
IVS 1-5 (G>C); c.92+5G>C |
2 |
Korea 2 |
Korea 1 and Vietnam 1 |
|
Codon 106 (CTG>CCG); c.320T>C (p.Leu107Pro); Hb Southampton (Hb Casper) |
1 |
Korea 1 |
Korea 1 |
|
Codon 37 (TGG>TGA); c.114G>A (p.Trp38Ter) |
1 |
Korea 1 |
Korea 1 |
|
Codon 8/9 +G; c.27dupG (p.Ser10Valfs*14) |
1 |
Korea 1 |
Korea 1 |
|
IVS 1-128 (T>G); c.93-3T>G |
1 |
Korea 1 |
Korea 1 |
|
Initiation codon ATG>ACG; c.2T>C (p.Met1Thr) |
1 |
Korea 1 |
Korea 1 |
|
-88 (C>A); c.-138C>A |
1 |
Korea 1 |
Korea 1 |
|
Codon 71/72 +A; c.217dupA (p.Ser73Lysfs) |
1 |
Korea 1 |
Vietnam 1 |
|
IVS 2-1 (G>A); c.315+1G>A |
1 |
Korea 1 |
Korea 1 |
|
-31A>G; c.-81A>G |
1 |
Korea 1 |
Korea 1 |
|
IVS 1-2 (T>C); c.92+2T>C |
1 |
Korea 1 |
Korea 1 |
|
CD 63 CAT>TAT; c.190C>T (p.His64Tyr); Hb M-Saskatoon |
1 |
Korea 1 |
Korea 1 |
|
Total |
28 |
Korea 28 |
Korea 20, Vietnam 4, Cambodia 2, Thailand 1, and Philippines 1 |
| HBA1/HBA2 gene mutation |
|
|
|
|
--SEA; HBA1/HBA2 gene heterozygous deletion |
8 |
Korea 8 |
Korea 2, Vietnam 5, and China 1 |
|
Codon 125 CTG>CCG; c.377T>C (p.Leu126Pro); Hb Quong Sze |
1 |
Korea 1 |
Vietnam 1 |
|
Total |
9 |
Korea 9 |
Korea 2, Vietnam 6, and China 1 |
