The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin.
During a study of Sardinian families with hereditary persistence of fetal hemoglobin (HPFH), two unrelated subjects with unusually elevated Hb F levels were identified. By selective amplification of the A gamma gene promoter and hybridization to synthetic oligonucleotides, we demonstrate that these subjects are homozygous for the -117A gamma G----A substitution that is responsible for a form of nondeletional HPFH. The hemoglobin synthetic pattern of these patients is discussed.
Camaschella
C
C
Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
Oggiano
L
L
Sampietro
M
M
Gottardi
E
E
Alfarano
A
A
Pistidda
P
P
Dore
F
F
Taramelli
R
R
Ottolenghi
S
S
Longinotti
M
M
D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree
D005914:Globins; D005319:Fetal Hemoglobin