Abstract:Globin gene mutations affecting hemoglobin (Hb) are present within 7% of the world population. More than 1000 Hb variants are known and most of them are not health compromising. Some of these variants may alter affinity for oxygen (O 2 ), through switching from the deoxygenated low-affinity "T" (for tense) to the oxygenated high-affinity "R" (for relaxed) Hb state.Low O 2 affinity variants are caused by globin amino acid substitution that destabilize the R state and/or reinforce the T state. This favors Hb-O 2… Show more
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