α-Globin genotypes in 319 patients with Hb H disease from California, Hong Kong, and Ontario31,33 41
| Hb H disease . | No. of patients . | % . |
|---|---|---|
| Deletional | 266 | 83 |
| (--SEA/-α3.7) | 175 | 55 |
| (--SEA/-α4.2) | 37 | 12 |
| (--FIL/-α3.7) | 36 | 11 |
| (--MED/-α3.7) | 8 | 2 |
| (--THAI/-α3.7) | 2 | < 1 |
| (--BRIT/-α3.7) | 1 | < 1 |
| (--SA/-α3.7) | 1 | < 1 |
| (--de novo/-α3.7) | 1 | < 1 |
| (--SEA/-α4.2 Q-Thailand [Codon 74 GAC>CAC or Asp→His]) | 4 | 1 |
| (--FIL/-α4.2 Q-Thailand [Codon 74 GAC>CAC or Asp→His]) | 1 | < 1 |
| Nondeletional | 53 | 17 |
| (--SEA/αConstant Spring [Codon 142 TAA>CAA or Ter→Gin]α) | 31 | 10 |
| (--SEA/αQuong Sze [Codon 125 CTG>CCG or Leu→Pro]α) | 7 | 2 |
| (--SEA/αCodon 30 deletion of GAGα) | 3 | < 1 |
| (--TOT/αCodon 30 deletion of GAGα) | 1 | < 1 |
| (--SEA/αInitiation codon ATG>AGα) | 1 | < 1 |
| (--THAI/αInitiation codon ATG>AGα) | 1 | < 1 |
| (--SEA/αCodon 31 AGG>AAG or Arg→Lysα) | 2 | < 1 |
| (--FIL/αCodon 35 TCC>CCC or Ser→Proα) | 1 | < 1 |
| (--MED/αIVS I deletion of TGAGGα) | 1 | < 1 |
| (--SEA/αCodon 59 GGC>GAC or Gly→Aspα) | 1 | < 1 |
| (--SEA/αPakse [Codon 142 TAA>TAT or Ter→Tyr)α) | 2 | < 1 |
| (--THAI/αConstant Spring [Codon 142 TAA>CAA or Ter→Gln]α) | 1 | < 1 |
| (αHb Sallanches [Codon 104 TGC>TAC or Cys→Tyr] α/αHb Sallanchesα) | 1 | < 1 |
| Hb H disease . | No. of patients . | % . |
|---|---|---|
| Deletional | 266 | 83 |
| (--SEA/-α3.7) | 175 | 55 |
| (--SEA/-α4.2) | 37 | 12 |
| (--FIL/-α3.7) | 36 | 11 |
| (--MED/-α3.7) | 8 | 2 |
| (--THAI/-α3.7) | 2 | < 1 |
| (--BRIT/-α3.7) | 1 | < 1 |
| (--SA/-α3.7) | 1 | < 1 |
| (--de novo/-α3.7) | 1 | < 1 |
| (--SEA/-α4.2 Q-Thailand [Codon 74 GAC>CAC or Asp→His]) | 4 | 1 |
| (--FIL/-α4.2 Q-Thailand [Codon 74 GAC>CAC or Asp→His]) | 1 | < 1 |
| Nondeletional | 53 | 17 |
| (--SEA/αConstant Spring [Codon 142 TAA>CAA or Ter→Gin]α) | 31 | 10 |
| (--SEA/αQuong Sze [Codon 125 CTG>CCG or Leu→Pro]α) | 7 | 2 |
| (--SEA/αCodon 30 deletion of GAGα) | 3 | < 1 |
| (--TOT/αCodon 30 deletion of GAGα) | 1 | < 1 |
| (--SEA/αInitiation codon ATG>AGα) | 1 | < 1 |
| (--THAI/αInitiation codon ATG>AGα) | 1 | < 1 |
| (--SEA/αCodon 31 AGG>AAG or Arg→Lysα) | 2 | < 1 |
| (--FIL/αCodon 35 TCC>CCC or Ser→Proα) | 1 | < 1 |
| (--MED/αIVS I deletion of TGAGGα) | 1 | < 1 |
| (--SEA/αCodon 59 GGC>GAC or Gly→Aspα) | 1 | < 1 |
| (--SEA/αPakse [Codon 142 TAA>TAT or Ter→Tyr)α) | 2 | < 1 |
| (--THAI/αConstant Spring [Codon 142 TAA>CAA or Ter→Gln]α) | 1 | < 1 |
| (αHb Sallanches [Codon 104 TGC>TAC or Cys→Tyr] α/αHb Sallanchesα) | 1 | < 1 |