Hb F-Mauritius [A gamma 23 (B5) Ala deleted]: evidence for an identical hotspot for deletions in the various beta-like genes.
Hemoglobin (Hb) F-Mauritius, a new A gamma chain variant, was identified from a dried blood spot collected from a heelprick during neonatal screening for the main hemoglobinopathies. This hemoglobin is the first gamma chain variant having a one residue deletion: it concerns alanine at position gamma 23. Hb F-Mauritius is therefore the counterpart of Hb Freiburg, an unstable variant of the beta chain in which the valine residue that occupies position beta 23 is deleted. The structural modification of Hb F-Mauritius was characterized by miniaturized protein chemistry methods, including sequence determination by mass spectrometry measurements. Hb Freiburg was used as a control in several experimental procedures. The hypothesis that a similar mechanism for deletion has occurred in Hb F-Mauritius and in Hb Freiburg is supported by the high percentage of homology observed between the beta and gamma globin genes. In addition, the first exon of the beta-globin has been recognized as a hotspot for deletion: several beta-thalassemic mutations, or abnormal Hbs, with deletions of short nucleotide sequences map in this region.
Wajcman
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H
INSERM U. 91, hôpital Henri-Mondor, Créteil, France.
Ducrocq
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R
Promé
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D
Galactéros
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F
D000409:Alanine / Q000235:genetics; D005319:Fetal Hemoglobin / Q000737:chemistry / Q000235:genetics*; D017353:Gene Deletion; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry
D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin; D000409:Alanine