A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].
A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC-->GTC); alpha75(EF4)Asp-->Val (alpha2)] corresponding to an A-->T transversion on the second exon of the alpha2-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.
Burnichon
Nelly
N
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
Lacan
Philippe
P
Becchi
Michel
M
Zanella-Cleon
Isabelle
I
Aubry
Martine
M
Mowafy
Mohammed
M
Couprie
Nicole
N
Francina
Alain
A
D019943:Amino Acid Substitution; D000740:Anemia / Q000097:blood / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D003062:Codon / Q000235:genetics; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
D003062:Codon; D006455:Hemoglobins, Abnormal; C512701:hemoglobin Al-Hammadi Riyadh; D005914:Globins