The level of Hb F-Sardinia (alpha 2A gamma 2(75)Ile----Thr) in the fetal hemoglobin of Sardinian beta-thalassemic homozygotes determined by isoelectric focusing.
A simple thin-layer isoelectric focusing technique was used to separate Hb F-Sardinia, containing the A gamma T-globin chain, from the Hb F containing the G gamma- and the A gamma I-globin chains. The identity of the slow-moving Hb F fraction as Hb F-Sardinia was verified by PAGE. A negative correlation (R2 = 0.747, p less than 0.001) was found between the percent Hb F-Sardinia and percent G gamma-chain in homozygotes for beta-thalassemia. Of 31 Sardinian beta-thalassemic patients studied, 21 were homozygous and eight heterozygous for the A gamma T polymorphism with a gene frequency of 0.823. The mean values of Hb F-Sardinia were 39.1 +/- 5.9% for the homozygotes and 17.1 +/- 3.6% for the heterozygotes. The percentage of Hb F-Sardinia found in beta o-thalassemic newborns was similar to that of corresponding normal newborns who also had the A gamma T polymorphism. No measurable differences in the percent Hb F-Sardinia level were observed among beta o-thal patients who were polytransfused, beta o-thal patients studied before transfusion, and beta o-thal patients exhibiting the intermediate form of the disease who had never been transfused.
Masala
B
B
Manca
L
L
Formato
M
M
Matera
A
A
D001797:Blood Protein Electrophoresis; D001803:Blood Transfusion; D005319:Fetal Hemoglobin / Q000032:analysis*; D005787:Gene Frequency; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000097:blood* / Q000235:genetics / Q000628:therapy
D006455:Hemoglobins, Abnormal; C040337:hemoglobin F Sardinia; D005914:Globins; D005319:Fetal Hemoglobin