A New α Chain Hemoglobin Variant: Hb Al-Hammadi Riyadh [α75(EF4)Asp→Val (α2)]

A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC→GTC); α75(EF4)Asp→Val (α2)] corresponding to an A→T transversion on the second exon of the α2-globin gene, is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). The varian...

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Veröffentlicht in:	Hemoglobin 2006, Vol.30 (2), p.155-164
Hauptverfasser:	Burnichon, Nelly, Lacan, Philippe, Becchi, Michel, Zanella-Cleon, Isabelle, Aubry, Martine, Mowafy, Mohammed, Couprie, Nicole, Francina, Alain
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Anemia - blood Anemia - genetics Biochemistry, Molecular Biology Chromatography, High Pressure Liquid Codon - genetics Globins - chemistry Globins - genetics Hemoglobin (Hb) Hemoglobins, Abnormal - chemistry Hemoglobins, Abnormal - genetics Humans Infant Isoelectric Focusing Life Sciences Male Mutation, Missense Point Mutation Polymerase Chain Reaction Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization Variant α2-Globin gene
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Beschreibung
Zusammenfassung:	A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC→GTC); α75(EF4)Asp→Val (α2)] corresponding to an A→T transversion on the second exon of the α2-globin gene, is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). The variant was found during a routine Hb analysis for anemia in a 16-month-old boy who lived in Riyadh, Kingdom of Saudi Arabia.
ISSN:	0363-0269 1532-432X
DOI:	10.1080/03630260600642096