Genetic heterogeneity of deletion and non-deletional Hb H disease in 355 Thai pediatric patients.
| Genotypes . | Number . | % . |
|---|---|---|
| Note: The majority of non-deletional mutations affect the α 2 gene, including two termination codon mutations: CS (Hb Constant Spring; TAA-CAA) and PS (Hb Paksé; TAA-TAT), Hb Q-Thailand; α74 Asp→His (GAC-CAC) in the α 4.2 hybrid gene, QS; Hb Quong Sze; α125 Leu→Pro (CTG-CCG), polyA signal (AATAA→AATA--) and intiation codon (ATG→A-G) mutations. PNP (Hb Pak Num Po: T insertion after codon 131) is the only α 1 gene mutation. | ||
| Deletional Hb H disease | ||
| --SEA/−α3.7 | 135 | 43.66 |
| --SEA/−α4.2 | 5 | 1.42 |
| --THAI/−α3.7 | 1 | 0.28 |
| --SEA/−α4.2(Q-Thailand) | 1 | 0.28 |
| Total | 142 | 40 |
| Non-deletional Hb H disease | ||
| --SEA/αCSα | 181 | 51 |
| --SEA/αPSα | 23 | 6.48 |
| --SEA/ααPNP | 3 | 0.84 |
| --SEA/αQSα | 2 | 0.56 |
| --THAI/αCSα | 1 | 0.28 |
| --SEA/αintA-Gα | 1 | 0.28 |
| --SEA/αAATA--α | 1 | 0.28 |
| --SEA/(αα)unknown | 1 | 0.28 |
| Total | 213 | 60 |
| Genotypes . | Number . | % . |
|---|---|---|
| Note: The majority of non-deletional mutations affect the α 2 gene, including two termination codon mutations: CS (Hb Constant Spring; TAA-CAA) and PS (Hb Paksé; TAA-TAT), Hb Q-Thailand; α74 Asp→His (GAC-CAC) in the α 4.2 hybrid gene, QS; Hb Quong Sze; α125 Leu→Pro (CTG-CCG), polyA signal (AATAA→AATA--) and intiation codon (ATG→A-G) mutations. PNP (Hb Pak Num Po: T insertion after codon 131) is the only α 1 gene mutation. | ||
| Deletional Hb H disease | ||
| --SEA/−α3.7 | 135 | 43.66 |
| --SEA/−α4.2 | 5 | 1.42 |
| --THAI/−α3.7 | 1 | 0.28 |
| --SEA/−α4.2(Q-Thailand) | 1 | 0.28 |
| Total | 142 | 40 |
| Non-deletional Hb H disease | ||
| --SEA/αCSα | 181 | 51 |
| --SEA/αPSα | 23 | 6.48 |
| --SEA/ααPNP | 3 | 0.84 |
| --SEA/αQSα | 2 | 0.56 |
| --THAI/αCSα | 1 | 0.28 |
| --SEA/αintA-Gα | 1 | 0.28 |
| --SEA/αAATA--α | 1 | 0.28 |
| --SEA/(αα)unknown | 1 | 0.28 |
| Total | 213 | 60 |