Mechanisms | Examples |
Single base substitution leading to amino acid replacement | Hemoglobin S |
Hemoglobin C |
Hemoglobin E |
Two replacements in same subunit | Hemoglobin C-Harlem |
Fusion hemoglobins | Hemoglobin Lepore (delta-beta) |
Hemoglobin Miyada (beta-delta) |
Hemoglobin Parchman (delta-beta-delta) |
Hemoglobin Kenya (gamma-beta) |
Deletion or insertion | Hemoglobin Gun Hill |
Insertion | Hemoglobin Grady |
Hemoglobin Catonsville |
Deletion and insertion | Hemoglobin Montreal |
Hemoglobin Galicia |
Extended subunit |
Termination codon mutation | Hemoglobin Constant Spring |
Frameshift mutation | Hemoglobin Wayne |
Hemoglobin Cranston |
N-terminal mutation leading to retention of initiator methionine | Hemoglobin Long Island |
Hemoglobin Marseille |