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High-resolution melting is a useful method for NIPD of β-thalassemias by detecting paternal mutations in the maternal plasma. Cell-free fetal DNA quantification and MoM values were not informative for HbS or β-thalassemias in early pregnancy.

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Heavy metals are the elements that can be toxic even at low concentrations. It is often used as a group name for metals and semimetals (metalloids) that have been associated with contamination and potential toxicity or ecotoxicity. Heavy metals are toxic to human health. Because it cannot be discarded with (kidney, liver intestine, skin, lung) without special support from most of the body's normal excretion routes Therefore, a large part of the heavy metals accumulate in biological organisms. As a result of the accumulation of these metals that are focused within living things, when they have reached the effective dose severe diseases (such as autism neurological, thyroid and infertility) even can cause death. In this review information about the properties and effects of some heavy metals that affects human health have been provided. Key words: Heavy metals, disease, toxic effect. ÖZAğır metaller; düşük derişimlerde bile toksik etki gösterebilen elementlerdir. Genellikle kontaminasyon ve potansiyel toksisite ya da eko-toksisite ile ilişkilendirilen metaller ya da yarı metaller (metalloidler) olarak isimlendirilirler. Ağır metaller organizmaya ağız, solunum ve deri yolu ile alınır ve çoğu özel bir destek olmadan vücudun boşaltım yolları ile (böbrek, karaciğer, barsak, akciğer, deri) atılamazlar. Bu nedenle ağır metallerin büyük bir bölümü, biyolojik organizmalarda birikirler. Birikim sonucu, canlıların bünyesinde yoğunlaşan bu metaller, etkili dozlara ulaştıklarında, ciddi hastalıklara (tiroit, nörolojik, otizm ve kısırlık gibi) hatta ölümlere neden olabilirler. Bu derlemede, insan sağlığını etkileyen bazı ağır metalleri ve bu metallerin özellikleri hakkında bilgi verilmektedir. Anahtar kelimeler: Ağır metaller, hastalık, toksik etki.

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SUMMARY. The analytical, intra-individual, inter-individual variation and reference values were determined for red cell glucose-6-phosphate dehydrogenase (G6PD). Different procedures for the conditions for storage of red blood cells and the preparation of haemolysates were investigated.A total of 2170 samples of blood were taken from apparently healthy persons-1212 males and 958 females-from randomly selected villages and city centres in the southern part of Turkey. Analytical variation, intra-individual variation and inter-individual variation were 8· 67%, 32· 8% and 31' 8070, respectively. The mean (SD) for G6PD was 8·6 (3' 3) IU/gHb. The index of individuality, 1,03, showed that the reference intervals could be used for diagnostic purposes.Whole blood or a red cell pellet could be stored in physiological saline for one week at 4°C or -20°with little loss of activity. Two of three different procedures for the preparation of haemolysate gave data that showed no statistical difference and were equally satisfactory.

SUMMARYMost cross-sectional and case-control studies indicate that an increased plasma total homocysteine (tHcy) level is an independent risk factor for coronary artery disease (CAD). However, this is still a controversial issue. Recently, it was reported that the level of tHcy is related to the extent and severity of CAD. This study was designed to investigate the relationship between plasma tHcy levels and the presence, extent, and severity of CAD.Three hundred and forty-one patients who underwent coronary angiography were included in the study. Of these patients, 195 had CAD and 146 had normal coronary arteries (control group). The mean tHcy level was found to be higher in patients with significant CAD (16.4 ± 7.4µmol/L vs 13.2 ± 3.6 µmol/L, P < 0.001). This group also had a higher rate of hyperhomocysteinemia (HHcy) (22.6% vs 5.5%, P < 0.001). There were positive relationships between tHcy levels and male gender (P = 0.03, r = 0.16), smoking (P < 0.001, r = 0.19), hyperlipidemia (P = 0.006, r = 0.15), and hypertension (P < 0.001, r = 0.20). Using regression analysis HHcy was determined to be an independent risk factor for CAD (OR = 3.69, CI 95% 1.51-9.06, P = 0.004). However, HHcy was not an independent risk factor in patients with low cardiovascular risk profiles. There was no relationship between the level of tHcy and the severity, extent, and vessel scores of CAD. On the other hand, age and diabetes mellitus were related with all scores of CAD.In conclusion, although hyperhomocysteinemia is an independent risk factor for CAD in our region, it appears to be unrelated to the extent and severity of the disease. (Jpn Heart J 2003; 44: 357-368)

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