Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser].
Two new beta-globin chain variants: Hb Tripoli: codon 26, GAG-->GCG [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou: codon 29, GGC-->AGC [beta29(B11)Gly-->Ser] are described on the first exon of the beta-globin gene. The two variants are characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities were found in the two carriers. The presence of microcytosis and hypochromia is explained by an additional homozygous 3.7 kb alpha(+) thalassemic deletion for the carrier of Hb Tizi-Ouzou. Hb Tizi-Ouzou showed a slight instability in vitro. The same hematological abnormalities associated with anemia are difficult to explain for Hb Tripoli's carrier in the absence of an alpha-globin genes abnormality and could suggest a possible abnormal splicing.
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon Cedex, France.
Philippe
P
Lacan
Michel
M
Becchi
Isabelle
I
Zanella-Cleon
Martine
M
Aubry
Martine
M
Ffrench
Nicole
N
Couprie
Alain
A
Francina
D019943:Amino Acid Substitution / Q000235:genetics*; D000747:Anemia, Hypochromic / Q000235:genetics; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D017354:Point Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics
D003062:Codon; D006455:Hemoglobins, Abnormal; C496304:hemoglobin Tizi-Ouzou; C496303:hemoglobin Tripoli