Article Abstract

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

Authors: Laszlo Prokai

Abstract

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.

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