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Many point mutations of the human hemoglobin (Hb) genes have been documented (1-4) and, without a doubt, more remain to be identified. Most of the mutations are single base replacements in the genes and, thus, result in single amino acid substitutions in the corresponding globin chains.

annals of translational medicine

Rapid and accurate diagnosis of hemoglobinopathy and β-thalassemia by ultrahigh-resolution mass spectrometry and tandem mass spectrometry from blood: review of a benchmark study