beta-Thalassaemia with increased haemoglobin A2 in Turkey. A study of 164 thalassaemic heterozygotes.

Clinical and haematological findings of 164 Turkish beta-thalassaemic heterozygotes with increased Hb-A2 are presented. The series comprised of 19 children, 81 females and 64 males. The majority of these thalassaemic individuals were asymptomatic and only 4 of them had slight or moderate splenomegaly. The mean values of haemoglobin concentration, PCV, MCH and MCHC were significantly lower than those of the corresponding normal controls. Erythrocytosis was present in 33% of them. Hb-A2 values ranged between 3.8 and 6.1%, and between 3.8 and 6.5% as assessed by the methods of DEAE- or DE-cellulose chromatography, respectively. Hb-F was found to be above the normal range in 15.1%. It is established that beta-thalassaemia with increased Hb-A2 is the most frequent variety of thalassaemia in Turkey (80%) and both beta+- and beta0-thalassaemia genes were present in this country. The regional distribution of beta-thalassaemia in Turkey is also presented and the origin of beta-thalassaemia genes in Turkish people is discussed.     

Nutritional value of some algae from the north-western Mediterranean coast of Egypt

Fourteen taxa from Chlorophyta, Rhodophyta and Phaeophyta were collected from seven stations at different depths, along the north-western Mediterranean coast of Egypt during winter and summer 2006. Total carbohydrates (TCH), total protein (TPr), total lipids (TL), chlorophyll a, β-carotene, minerals and trace metals were determined in a total of 50 specimens. The concentrations of these components varied significantly with respect to the algal taxa and showed different patterns of distribution in the three classes. The content of TCH ranged from 5 to 20.9?%, being much higher for Cystoseira spinosa (20.9?%), TPr 3.86 to 27.65?% where Gelidium corneum showed the maximum value and TL content displayed wide variation (2.34 to 48.95?%), with Sargassum hornschuchii having the highest values. A minor component was β-carotene in all samples (1.80?2.50?×?10^?3 mg (100 g)^?1) which was much lower than in vegetables, in contrast to chlorophyll a concentrations which have attained high values (6.70?94.20 mg (100 g)^?1) and were lower than in vegetables. Mineral content was abundant in all samples and was higher than in common food and vegetables, whereas the measured trace metals all exceeded the permissible doses and were far from the accepted concentrations in the regulations of many countries. This limits their use in food consumption, except copper which recorded acceptable concentrations in the study. The maximum values of phosphorus (3,305 mg (100 g^?1), potassium (930 mg (100 g^?1) and calcium (3,070 mg (100 g^?1) were recorded in members of Chlorophyceae: Codium bursa, Udotea sp. and Udotea petiolata, whereas the red alga Rhodymenia ardissonei had the lowest concentrations in iodine (80 ppm) and sodium (1,450 mg (100 g)^?1) and the highest concentrations in the trace metals copper (3.89 ppm), nickel (13.14 ppm), zinc (38.87 ppm) and a relatively large amount of lead (41.60 ppm).     

Haptoglobin and transferrin types in Eti-Turks

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.     

Microsatellite instability and mutations of p53 and TGF-‚ RII genes in gastric cancer

To investigate the molecular mechanism of gastric carcinogenesis, we analyzed genetic instability and p53 gene mutations in 40 primary gastric carcinomas. Tumor samples were from untreated patients with no family history suggestive of genetic predisposition to cancer. We screened six microsatellite loci by the polymerase chain reaction (PCR) method, and exons 5–8 of the p53 gene by the PCR-based denaturing gradient gel electrophoresis and sequencing techniques. Microsatellite instability was detected in 32.5% (13/40), and gene mutations in 40% (16/40), of the tumors analyzed. No statistically significant associations were found between genetic alterations and clinico-pathological variables (with the exception of diffusion of lymph node metastases, which was inversely associated with the presence of microsatellite alterations; P < 0.01). Interestingly, a negative association was found between genetic instability and p53 gene mutations: 11 out of 13 tumors showing instability proved to carry a nonmutated p53 gene versus 2/13 carrying a mutated gene (P = 0.03). These observations suggest that genetic instability and p53 gene mutations play a crucial role in the gastric carcinogenic process, but likely act through distinct pathways during cancer development. However, genetic instability is not in and of itself neoplastic. Therefore, we investigated whether insertion/deletion mutations of the polyadenine tract within the transforming growth factor-β type II receptor gene (TGF-βRII) were frequently present in gastric tumors with an RER+ (replication error) phenotype. We found RII mutations in 8/40 (20%) samples: mutations were present in 7/13 (54%) RER+ tumors versus 1/27 (4%) RER– cases (P < 0.001). Received: 14 May 1996 / Revised: 13 June 1996