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.

Abstract

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.

• Authors: B Masala, L Manca, M Formato, A Matera
• Journal: American journal of hematology (Am J Hematol) Vol. 21 Issue 4 Pg. 367-76 (Apr 1986) ISSN: 0361-8609 [Print] United States
• PMID: 2420171 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin F Sardinia
• Globins
• Fetal Hemoglobin

Topics

• Blood Protein Electrophoresis
• Blood Transfusion
• Fetal Hemoglobin (analysis)
• Gene Frequency
• Globins (genetics)
• Hemoglobins, Abnormal (analysis)
• Homozygote
• Humans
• Infant
• Infant, Newborn
• Isoelectric Focusing
• Polymorphism, Genetic
• Thalassemia (blood, genetics, therapy)