Forty recently diagnosed β-thalassemia major/intermedia patients and their β-thalassemia mutations
Patient no. . | Age, y . | Sex . | Ethnic background . | β-thalassemia mutation on one HBB allele . | β-thalassemia mutation on the other HBB allele . |
|---|---|---|---|---|---|
| 1 | 12 | M | African American | Nt-88 (C>T) | Polyadenylation signal (AATAAA>AACAAA) |
| 2* | 7 | M | Syrian | Nt -87 (C>G) | Nt -87 (C>G) |
| 3* | 13 | M | Syrian | Nt -87 (C>G) | Nt -87 (C>G) |
| 4* | 25 | M | Syrian | Nt -87 (C>G) | Nt -87 (C>G) |
| 5 | 16 | F | Greek | Nt -87 (C>G) | Codon 39 (CAG>TAG) |
| 6 | 14 | F | Ghanaian | Nt -29 (A>G) | Nt -29 (A>G) |
| 7 | 3.5 | F | Asian | Nt -28 (A>G) | Codons 41/42 (-CTTT) |
| 8 | 1.75 | F | Chinese | Nt -28 (A>G) | Codons 71/72 (+A) |
| 9 | 34 | F | Pakistani | Cap + 1 (A>C) | IVSI (-1) (AGGT>AAGT) |
| 10 | 11 | M | Afghani | Codon 5 (-CT) | Codon 16 (-C) |
| 11 | < 1 | F | Pakistani | Codons 8/9 (+G) | Codons 8/9 (+G) |
| 12 | 16 | M | Cambodian | Codon 17 (AAG>TAG) | Codon 17 (AAG>TAG) |
| 13 | 6 | F | Asian | Codon 17 (AAG>TAG) | Codons 41/42 (-CTTT) |
| 14 | 1 | F | Laotian | Hb E; Codon 26 (GAG>AAG) | Codons 41/42 (-CTTT) |
| 15† | 1.5 | F | Laotian | Hb E; Codon 26 (GAG>AAG) | Codons 41/42 (-CTTT) |
| 16† | 7 | M | Laotian | Hb E; Codon 26 (GAG>AAG) | Codons 41/42 (-CTTT) |
| 17 | 4 | M | East Indian | IVSI-1 (G>T) | IVSI-1 (G>T) |
| 18 | 19 | F | East Indian | IVSI-1 (G>T) | IVSI-5 (G>C) |
| 19 | 5 | F | Asian | IVSI-1 (G>T) | IVSI-5 (G>C) |
| 20 | 12 | M | Asian | IVSI-1 (G>T) | Codons 41/42 (-CTTT) |
| 21 | 14 | M | East Indian | IVSI-1 (G>T) | IVSII-837 (T>G) |
| 22 | < 1 | M | Bangladesh | IVSI-5 (G>C) | IVSI-5 (G>C) |
| 23 | 15 | F | Asian | IVSI-5 (G>C) | Codons 41/42 (-CTTT) |
| 24 | 11 | M | Asian | IVIS-5 (G>C) | 3′ 619-bp deletion |
| 25 | 26 | M | Bangladesh | IVSI-5 (G>C) | HPFH-3, Indian type |
| 26 | 26 | M | Lebanese | IVSI-6 (T>C) | IVSI-6 (T>C) |
| 27 | 31 | F | Greek | IVSI-6 (T>C) | IVSI-6 (T>C) |
| 28 | 12 | M | Lebanese | IVSI-6 (T>C) | IVSI-110 (G>A) |
| 29‡ | 4 | F | Irish/Italian/Portuguese | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 30‡ | 4 | F | Irish/Italian/Portuguese | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 31 | 7 | F | Hispanic | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 32§ | 8 | M | Cuban | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 33§ | 9 | M | Cuban | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 34 | 29 | F | Italian | IVSI-6 (T>C) | IVSII-1 (G>A) |
| 35∥ | 3 | F | Irish | Codon 91 (-T)2 | No mutation |
| 36∥ | 25 | F | Irish | Codon 91 (-T)2 | No mutation |
| 37∥ | 51 | F | Irish | Codon 91 (-T)2 | No mutation |
| 38∥ | 53 | F | Irish | Codon 91 (-T)2 | No mutation |
| 39¶ | < 1 | F | Egyptian | IVSII-745 (C>G) | Hb Lepore Boston-Washington |
| 40¶ | 15 | M | Egyptian | IVSII-745 (C>G) | Hb Lepore Boston-Washington |
Patient no. . | Age, y . | Sex . | Ethnic background . | β-thalassemia mutation on one HBB allele . | β-thalassemia mutation on the other HBB allele . |
|---|---|---|---|---|---|
| 1 | 12 | M | African American | Nt-88 (C>T) | Polyadenylation signal (AATAAA>AACAAA) |
| 2* | 7 | M | Syrian | Nt -87 (C>G) | Nt -87 (C>G) |
| 3* | 13 | M | Syrian | Nt -87 (C>G) | Nt -87 (C>G) |
| 4* | 25 | M | Syrian | Nt -87 (C>G) | Nt -87 (C>G) |
| 5 | 16 | F | Greek | Nt -87 (C>G) | Codon 39 (CAG>TAG) |
| 6 | 14 | F | Ghanaian | Nt -29 (A>G) | Nt -29 (A>G) |
| 7 | 3.5 | F | Asian | Nt -28 (A>G) | Codons 41/42 (-CTTT) |
| 8 | 1.75 | F | Chinese | Nt -28 (A>G) | Codons 71/72 (+A) |
| 9 | 34 | F | Pakistani | Cap + 1 (A>C) | IVSI (-1) (AGGT>AAGT) |
| 10 | 11 | M | Afghani | Codon 5 (-CT) | Codon 16 (-C) |
| 11 | < 1 | F | Pakistani | Codons 8/9 (+G) | Codons 8/9 (+G) |
| 12 | 16 | M | Cambodian | Codon 17 (AAG>TAG) | Codon 17 (AAG>TAG) |
| 13 | 6 | F | Asian | Codon 17 (AAG>TAG) | Codons 41/42 (-CTTT) |
| 14 | 1 | F | Laotian | Hb E; Codon 26 (GAG>AAG) | Codons 41/42 (-CTTT) |
| 15† | 1.5 | F | Laotian | Hb E; Codon 26 (GAG>AAG) | Codons 41/42 (-CTTT) |
| 16† | 7 | M | Laotian | Hb E; Codon 26 (GAG>AAG) | Codons 41/42 (-CTTT) |
| 17 | 4 | M | East Indian | IVSI-1 (G>T) | IVSI-1 (G>T) |
| 18 | 19 | F | East Indian | IVSI-1 (G>T) | IVSI-5 (G>C) |
| 19 | 5 | F | Asian | IVSI-1 (G>T) | IVSI-5 (G>C) |
| 20 | 12 | M | Asian | IVSI-1 (G>T) | Codons 41/42 (-CTTT) |
| 21 | 14 | M | East Indian | IVSI-1 (G>T) | IVSII-837 (T>G) |
| 22 | < 1 | M | Bangladesh | IVSI-5 (G>C) | IVSI-5 (G>C) |
| 23 | 15 | F | Asian | IVSI-5 (G>C) | Codons 41/42 (-CTTT) |
| 24 | 11 | M | Asian | IVIS-5 (G>C) | 3′ 619-bp deletion |
| 25 | 26 | M | Bangladesh | IVSI-5 (G>C) | HPFH-3, Indian type |
| 26 | 26 | M | Lebanese | IVSI-6 (T>C) | IVSI-6 (T>C) |
| 27 | 31 | F | Greek | IVSI-6 (T>C) | IVSI-6 (T>C) |
| 28 | 12 | M | Lebanese | IVSI-6 (T>C) | IVSI-110 (G>A) |
| 29‡ | 4 | F | Irish/Italian/Portuguese | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 30‡ | 4 | F | Irish/Italian/Portuguese | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 31 | 7 | F | Hispanic | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 32§ | 8 | M | Cuban | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 33§ | 9 | M | Cuban | IVSI-6 (T>C) | Codon 39 (CAG>TAG) |
| 34 | 29 | F | Italian | IVSI-6 (T>C) | IVSII-1 (G>A) |
| 35∥ | 3 | F | Irish | Codon 91 (-T)2 | No mutation |
| 36∥ | 25 | F | Irish | Codon 91 (-T)2 | No mutation |
| 37∥ | 51 | F | Irish | Codon 91 (-T)2 | No mutation |
| 38∥ | 53 | F | Irish | Codon 91 (-T)2 | No mutation |
| 39¶ | < 1 | F | Egyptian | IVSII-745 (C>G) | Hb Lepore Boston-Washington |
| 40¶ | 15 | M | Egyptian | IVSII-745 (C>G) | Hb Lepore Boston-Washington |