Association in cis of beta +-thalassemia and hemoglobin S.
A Moroccan woman was investigated because of a typical beta-thalassemia trait associated with a low-percentage (11%) hemoglobin (Hb) variant. The beta-thalassemia trait was manifested by a microcytosis, a high HbA2 (above 6%), and an increase of the alpha/beta biosynthetic ratio (1.31). The variant was identified to HbS by amino acid analysis of the abnormal peptide (beta T1) and by DNA mapping with Sau I (Mst II) restriction endonuclease. No additional amino acid substitution was recorded in the beta s-chain. The reduction of beta-globin synthesis occurred exclusively at the expense of the beta s-chain. These results are consistent with the existence of a beta s mutation and a beta +-thalassemia in cis.
Baklouti
F
F
Faculté de Médecine Grange Blanche, CNRS UA 1171, Lyon, France.
Francina
A
A
Dorléac
E
E
Richard
G
G
Rosenberg
D
D
Godet
J
J
Delaunay
J
J
D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon; D005260:Female; D014644:Genetic Variation; D006441:Hemoglobin A / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood* / Q000175:diagnosis / Q000235:genetics
D003062:Codon; D006451:Hemoglobin, Sickle; D006441:Hemoglobin A