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The level of Hb F‐sardinia (α 2 A γ 2 75IIe→Thr ) in the fetal hemoglobin of sardinian β‐thalassemic homozygotes determined by isoelectric focusing
Author(s) -
Masala B.,
Manca L.,
Formato M.,
Matera A.
Publication year - 1986
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830210405
Subject(s) - thalassemia , fetal hemoglobin , isoelectric focusing , hemoglobinopathy , hemoglobin , heterozygote advantage , microbiology and biotechnology , fetus , genetics , chemistry , biology , medicine , hemolytic anemia , gene , genotype , biochemistry , pregnancy , enzyme
A simple thin‐layer isoelectric focusing technique was used to separate Hb F‐Sardinia, containing the A γ T ‐globin chain, from the Hb F containing the γ‐ and the A γ I ‐ globin chains. The identity of the slow‐moving Hb F fraction as Hb F‐Sardinia was verified by PAGE. A negative correlation (R 2 = 0.747, p < 0.001) was found between the percent Hb F‐Sardinia and percent G γ‐chain in homozygotes for β‐thalassemia. Of 31 Sardinian β‐thalassemic patients studied, 21 were homozygous and eight heterozygous for the A γ 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 β°‐thalassemic newborns was similar to that of corresponding normal newborns who also had the A γ T poly‐morphism. No measurable differences in the percent Hb F‐Sardinia level were observed among β°‐thal patients who were polytransfused, β°‐thal patients studied before transfusion, and β°‐thal patients exhibiting the intermediate form of the disease who had never been transfused.