A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alpha1 gene.
The most common causes of alpha-thalassemia (thal) are deletions that remove a part, or one or both of the functional alpha-globin genes. These deletions cause diminished expression of the alpha-globin protein, which may result in relatively low hemoglobin (Hb) and/or mean corpuscular volume (MCV) values. We here report the identification of a 970 bp deletion in the alpha1-globin gene that encompasses the entire promoter region of the alpha1-globin gene and 26 bp encoding the 5' end of the mRNA. Thus, the affected alpha1-globin gene is prone to be nonfunctional. We therefore nominated the newly identified deletion allele alpha-alphaDelta970. The MCV values of four related carriers of the alpha-alphaDelta970 allele were slightly lowered, consistent with the presence of three functional alpha-globin genes.
Poodt
Jeroen
J
Multidisciplinary Laboratory for Molecular Diagnostics, Jeroen Bosch Hospital, s-Hertogenbosch, The Netherlands.
Martens
Henk A M
HA
Walsh
Ita B B
IB
Felix-Schollaart
Bente
B
Hermans
Mirjam H A
MH
D000328:Adult; D005260:Female; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009426:Netherlands; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
D005914:Globins