Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.
Two new delta-globin gene mutations have been detected: one leads to a fairly stable Hb A2 variant differing electrophoretically only minimally from normal Hb A2, and the second causes a delta(+)-thalassemia (thal) phenotype.
Frischknecht
Hannes
H
IMD Institute for Medical and Molecular Diagnostics Ltd., Zurich, Switzerland. hannes@imdlab.ch
Dutly
Fabrizio
F
D000328:Adult; D002675:Child, Preschool; D002852:Chromatography, Ion Exchange / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation / Q000235:genetics*; D005914:Globins / Q000032:analysis / Q000235:genetics*; D006441:Hemoglobin A / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007493:Iraq; D007558:Italy; D017354:Point Mutation / Q000235:genetics*; D016385:TATA Box / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; D006441:Hemoglobin A