α-thalassaemia

Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia

Erythrocyte membrane ATPases of AS and SS subjects

Erythrocyte membranes of normal, AS, and SS subjects were prepared and the specific activities of membrane ATPases of each were determined. Also G6PD activities of the above mentioned red cells were determined. The Na+KK+/Mg2+ dependent ATPase was significantly decreased in AS by 7% and by 5% in SS subjects as compared with controls. The Ca2+/Mg2+ ATPase activity was by far the most affected. A 9% increase in AS and 11% increase in SS subjects as compared with normals were observed. The Mg2+ ATPase showed variable results, an increase in AS, and a decrease in SS from control values being noted. Of ATPases in controls only the Mg2+ ATPase showed a significant variation between males and females. G6PD activity and pump enzymes of controls and AS and SS subjects showed no significant correlation, P > 0.05

The diagnostic value of GGT and A1FP in liver diseases

Serum ? glutamyl transpeptidase (GGT) determinations are useful in the diagnosis and follow up of liver disease, especially in metastatic tumors in comparison to other liver function tests. In this work serum ? glutamyl transpeptidase, aspartate amino transferase, alanine amino transferase, bilirubin, protein electrophoresis and ?-fetoprotein (?1FP) were determined in patients with various liver diseases at the gastroenterology and general surgery clinics of the Cukurova Medical Faculty Hospital. Control samples of blood were taken from blood donors. The GGT levels showed a significant rise in comparison to other liver function tests and was therefore found to be of superior diagnostic value

Quality control in clinical laboratories and the importance of cooperation with the clinicians

[No abstract available

Glucose 6-phosphate dehydrogenase deficiency both in red blood cells and lenses of the normal and cataractous native population of Cukurova, the southern part of Turkey. Part I

PubMedID: 2789354Glucose 6-phosphate dehydrogenase (G6PD) activity was measured in both red blood cells and lenses of persons with cataracts living in Cukurova, the southern part of Turkey, where G6PD deficiency is well documented. The incidence of red blood cell G6PD deficiency among the patients with cataract (33.3%) was significantly higher than that in individuals with clear lenses (8.2%). The incidence of lens G6PD deficiency in a total of 52 patients with cataract was 52%. Of the lens G6PD-deficient cases, 46.2 and 28.6% of female and male patients, respectively, also showed red blood cell G6PD deficiency

Assessment of the fluorescent spot test as a screening method for G6PD deficiency

Various screening tests are devised to detect glucose-6-phosphate dehydrogenase (G6PD) deficiency. The selected method should be easy, should give reliable results on G6PD deficiency, and detect heterozygosity as well as heterogeneity of G6PD. We selected the fluorescent spot test for our population studies. To assess the validity of the fluorescent spot test, 33 positive controls, 12 negative and 9 doubtful results were assayed quantitatively. Cellulose acetate electrophoresis was done on all samples. The fluorescent spot test correlated well with the quantitative results. Heterozygosity as well as heterogeneity of G6PD deficiency could be inferred from the negative and doubtful results

Detection of deletional alpha thalassemia in Cukurova

Purpose: ?-Thalassemia is caused by the deletion or the mutation of ?-globin genes and characterized by reduction or absence of ?-globulin chains. The high incidence of ?-thalassemia in Cukurova has been well documented. In this study, the index case with Hemoglobin H and his family were investigated for ?-thalassemia on a molecular basis. Methods: The polymerase chain reaction (PCR) was used for the detection of deletional ?-thalassemia namely 3.7 kb, 4.2 kb, 17.5 kb and 20.5 kb. Results: Seven members of the family were ?-thalassemia-2 with a deletion of 3.7 kb in length. None of the member had 4.2 kb and 17.5 kb deletions, ?-thalassemia-1 with 20.5 kb deletion was found in the father of the index case. Three members of the family had Hb H disease which is comprised of a combined heterozigosity of ?-thalassemia-2 and ?-thalassemia-1. Another member of the family had both ß-and ?-thalassemia. Conclusion: Thus, deletional ?-thalassemias which have been molecularly characterized are found in the population of Cukurova. At the same time there are also combinations of ?-thalassemias with other forms of ?-thalassemias and other hemoglobinopathies