Table 1.
Representative Beta Chain Hemoglobin Variants
Hemoglobin | Original Geographic Association | Amino Acid Substitution | Traita | Occurrencea | Noteb |
---|---|---|---|---|---|
S | Africa | E6V | (AS) 8% | (AS) 1:12 (SS) 1:500 |
mild moderate/severe |
C | Africa | E6K | (AC) 2% | (AC) 1:40 (CC) 1:150 |
benign mild |
Ec | Asia | E26K | (AE) 10% | (AE) 1:10 (EE) - |
benign mild |
D Los Angelesd | Europe/India | E121Q | rare | 1:30,000 | benign |
SC | Africa | E6V/E6K | - | (SC) 1:2,500 | moderate/severe |
SE | - | E6V/E26K | - | - | moderate/severe |
SD | - | E6V/E121Q | - | - | moderate/severe |
Trait and Occurrence in USA – in African Americans and in Asian American Immigrants
Degree of hemolytic anemia
Prevalent in Southeast Asia and ranges from 30–60% dependent upon region
Also known as D Punjab - occurs in 3% of individuals from India and Pakistan