The APOE gene is located on chromosome 19, and the three common alleles are designated ε2, ε3, and ε4. The ε4 allele is associated with increased plasma cholesterol, atherosclerosis and cardiovascular disease, Alzheimer's disease, and decreased longevity. The objective of the present study was to estimate the distribution of APOE alleles in the Greek population by DNA analysis. The material consisted of 216 voluntary, healthy Greek blood donors (146 males/70 females). The APOE allele frequencies were ε2: 5.3%, ε3: 88.2%, ε4: 6.5%. The ε4 allele frequency of 6.5% in the Greek population is, together with the frequency in the Chinese population, among the lowest in the world.
Aim: The aim of this research is to study the variance of erythrocyte ferritin (EF) in patients with chronic renal failure (CRF) and heterozygous β-thalassemia (β-TA), as well as the use of EF as a more reliable index for assessing the body iron status. Methods: We studied 63 subjects with CRF, 40 subjects with heterozygous β-TA, 53 subjects with CRF and heterozygous β-TA and 24 normal subjects. In 11 patients with CRF and heterozygous β-TA, sternal bone marrow aspiration was performed to evaluate iron stores in the bone marrow. EF was determined in the hemolysate of washed erythrocytes by a radioimmunoassay. Results: EF showed the strongest correlation with bone marrow iron (p < 0.001) in comparison with the remaining hematological parameters that were examined. Patients with CRF without heterozygous β-TA showed an increase in serum ferritin (SF), even in cases of iron deficiency. In the group of heterozygous β-TA without renal failure, 22.5% of patients showed an increased EF content up to 150 ag/cell and a tendency for iron overload. Patients with CRF and heterozygous β-TA showed a high value of EF, up to 200 ag/cell, and iron overload in 22.6%, almost the same proportion as in the previous group. It was also observed that a high value of SF does not indicate iron overload for these patients. In the group of hemodialysis, patients without heterozygous β-TA who were under erythropoietin (EPO) treatment presented iron deficiency. Many patients with CRF and heterozygous β-TA who were taking EPO presented iron overload, while very few of them presented iron deficiency. Conclusion: These findings suggest that EF is a reliable index for assessing the iron status in patients with CRF and heterozygous β-TA.
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