Biomedical subjects
Publications and source records attributed to M Aksoy.
Haptoglobin and transferrin types were examined in Eti-Turks. The Hp1 frequency was 0.26. With the exception of two individuals with transferrin D, only the transferrin C was observed. The gene frequencies were in the range of most of the Asiatic populations including Turks.
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An inverse relationship between vitamin A uptake and cancer as well as serum cholesterol concentration and cancer has been shown. An inverse relationship between serum cholesterol and retinol has also been reported. In a study, in which female Sprague-Dawley rats with MNU-induced mammary tumors were fed diets containing different amounts of fat and vitamins A and E, the effect of these diets on the inverse association between the cancer risk and both plasma lipids and vitamin A, E was investigated. According to the data obtained there is not only a relationship between plasma cholesterol and vitamin A, but also a similar relationship between cholesterol and vitamin E. The relationship between triglycerides and the two vitamins was also parallel to that of the cholesterol-vitamin A relationship. The interactions between cancer, plasma lipids and vitamin A, E could be modified by certain diets. However, further studies will be needed to elucidate these interactions.
Two patients with CML who developed endometrial cancer following 2 years of busulfan treatment are reported. The possibility of a causal relationship between the cytotoxic drug and the development of this malignancy is discussed.
7 cases of multiple myeloma with a history of exposure to benzene, radioactive iodine, chemotherapy for Hodgkin's disease and of repeated injections of autovaccine to Staphylococcus albus hemolyticus are described. The relationship between the development of multiple myeloma and possible etiologic factors is discussed.
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The effect of transferrin absence on in vitro globin chain synthesis and on the alpha/beta ratio were investigated in four patients with beta-thalassemia intermedia and one heterozygote with "silent" beta-thalassemia. With one exception the lack of transferrin in the incubation medium resulted in the reduction of the globin alpha/beta ratio which paralleled a reduction in overall protein synthesis. In one patient with beta-thalassemia intermedia, however, the absence of transferrin failed to affect this ratio.
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Globin-gene mapping of DNA from 13 families with normal Hb A2 beta-thalassaemia (both type 1 and type 2) failed to detect any difference from normal in their globin-gene arrangement. We conclude that deletions such as those responsible for gamma beta-thalassaemia or a 'silent' Hb Lepore are not responsible for this type of beta-thalassaemia in Greece.
Four homozygotes for beta-thalassemia with normal hemoglobins A2 and F were studied. The absence or scarcity of transfusion requirement and comparatively low hemoglobin F content were the most important findings. Both parents of 3 patients showed the findings of beta-thalassemia with normal hemoglobins A2 and F. Biosynthetic studies in 2 patients and their both parents showed moderate or mild beta-chain deficiency. The possible reason for this comparatively mild course of a beta-thalassemia syndrome lies in a mild deficit in beta-chain production.
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Two homozygous delta 0 beta 0-thalassemia patients, one with the G gamma A gamma type and the other with the G gamma type, and their heterozygous parents are described. Red cell indices among the heterozygotes with the G gamma A gamma type of delta 0 beta 0-thalassemia were markedly different from those in heterozygotes with the G gamma type. However, the imbalance in in vitro hemoglobin synthesis was quite similar in the two heterozygous conditions. The same was observed for the homozygous patients; the in vitro chain synthesis was severely imbalanced as seen in beta-thalassemia major. The clinical and some of the hematological findings were milder in the G gamma-delta 0 beta 0-thalassemia homozygote than in the G gamma A gamma-delta 0 beta 0-thalassemia homozygote. The death of a sibling of the G gamma-delta 0 beta 0-thalassemia homozygote with a diagnosis of thalassemia major suggests that both types of delta 0 beta 0-thalassemia could follow a severe clinical and hematological course. The discovery of the G gamma type of delta 0 beta 0-thalassemia in a Turkish child shows that two types of delta 0 beta 0-thalassemia can be found in that country. Differentiation between the two types can only be made through structural analyses of Hb F.
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135 Turks living in the vicinity of Antalya, a Turkish city on the Mediterranean coast, were studied for haemoglobin variants, beta-thalassaemia G-6-PD deficiency and haptoglobin types. The incidence of Hb-S was 2.3%. 8 beta-thalassaemic individuals with increased Hb-A2 and patient with 1 sickle cell-beta2-thalassaemia disease were found. The incidence of beta-thalassaemia with increased Hb-A2 was 6.7% and that of G-6-PD deficiency was 5.4%. The distribution of haptoglobin types in these people was very similar to that found in Turkish people in general; the only exception was the presence of Hp O in 2 individuals without haemolytic disorder. Gene frequencies of Hp1 and Hp2 were 0.26 and 0.7p4, respectively.