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

Anaemia and iron-deficiency anaemia in south-east Anatolia

Purpose : To determine the prevalence of anaemia and iron-deficiency anaemia (IDA) in Kahramanmaras, a province in the southeastern Anatolia. Methods : The study was performed on 1491 persons of both sexes aged 2-69. All were volunteers. Haematological parameters were determined and haemoglobin (Hb) electrophoresis was carried out in all subjects, and only for those with haemoglobin levels below normal were subsequent measurements of ferritin and Hb A(2) made to detect iron deficiency and rule out beta-thalassaemia. Results : The means of all the haematological parameters for all age groups and sexes were found to be lower than the reference values given in the literature. Anaemia was found to be present in all age groups, especially in children aged 2-5 yr and women aged 19-40 yr (34.5% and 40.0%, respectively). IDA in the same age groups was 15.5% and 23.8%, respectively. Conclusion : The high rate of IDA raises serious concern about nutritional disease risks in the region. An inexpensive oral iron therapy and education as to the importance of iron for their health would help to provide optimal health for the population concerned, especially for mothers-to-be and children

3 NEW G6PD VARIANTS, G6PD ADANA, G6PD SAMANDAG, AND G6PD BALCALI IN CUKUROVA, TURKEY

WOS: A1987H778600019PubMed ID: 3610149

CORRELATION BETWEEN TRACE-ELEMENTS AND LIPID PROFILES

WOS: A1994QK13300003The aim of this study was to examine the plasma Cu, Zn, and Mg levels in three different groups (control, hyperlipidemic, and hypercholesterolemic) and to determine any correlation between these parameters and the level of triglyceride (T.G), cholesterol (Chol), LDL, and HDL. For this purpose, serum Cu, Zn, and Mg levels were determined by atomic absorbtion spectrophotometry in three groups: Group I (n = 35 control, normal lipid profile); Group II (n = 36 hyperlipidemic); Group III (n = 15 familial hypercholesterolemia), and the results were statistically analyzed. The results and their statistical evaluation for the lipid and plasma Cu, Zn, and Mg levels were as follows: Only statistically significant differences were observed between Group I and Group II for T.G, Chol, LDL, and HDL, but no statistically significant differences were observed between the other groups and parameters. When associations between T.G, Chol, LDL, HDL, and plasma Cu, Zn, Mg were examined, significant correlations were observed between Cu and T.G (r = 0.356), Cu and Chol (r = 0.828), Cu and LDL (r = 0.806) in Group III; Zn and HDL (r = 0.543) in Group I, Zn and Chol (r = 0.378), Zn and LDL (r = 0.538) in Group III; Mg and T.G (r = 0.354), Mg and Chol (r = 0.444), Mg and LDL (r = 0.433), Mg and HDL (r = 0.375) in Group I. (C) 1995 Wiiey-Liss, Inc

POPULATION STUDIES OF HEMOGLOBIN-S AND OTHER VARIANTS IN CUKUROVA, THE SOUTHERN PART OF TURKEY

WOS: A1987H968700001PubMed ID: 3687326

STUDIES ON RED-CELL GLUCOSE-6-PHOSPHATE-DEHYDROGENASE - EVALUATION OF REFERENCE VALUES

WOS: A1994MU13700009PubMed ID: 8154852The 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 31.8%, 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 degrees C or -20 degrees 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

Prenatal diagnosis of Hb H disease caused by a homozygosity for the alpha 2 poly A (AATAAA -> AATAAG) mutation

Titus H J Huisman Memorial Symposium -- 36686 -- MED COLL, AUGUSTA, GEORGIAWOS: 000169996300012PubMed ID: 11480787

Genetic heterogeneity of beta-thalassemia at Cukurova in southern Turkey

Titus H J Huisman Memorial Symposium -- 36686 -- MED COLL, AUGUSTA, GEORGIAWOS: 000169996300010PubMed ID: 11480785beta -Thalassemia is the most common genetic abnormality causing health problems worldwide. Cukurova, in the southern part of Turkey, being on the Mediterranean, is in the thalassemic belt. Since there is no cure for the disease at present, the frequency of the mutation types of P-thalassemia must first be identified to aid in clinical follow-up and prenatal diagnosis. Carriers identified during a screening survey and patients referred to our laboratory were studied for this purpose. After routine hematological analysis molecular screening was performed by the amplification refractory mutation system and DNA sequencing. The frequency of the common mutations were: IVS-I-110 (G --> A) 57.3%, IVS-I-1 (G --> A) 8.3%, codon 39 (C --> T) 6.4%, IVS-I-6 (T --> C) 5.7%, frameshift codon 8 (- AA) 5.7%, -30 (T --> A) 4.7%, IVS-II-1 (G --> A) 3.4%, IVS-II-745 (G --> C) 2.8%, and frameshift codon 5 (-CT) 1.1%. Some rare mutations (1%) such as frameshift codon 44 (-C) 0.7%, frameshift codons 74/75 (-C) 0.7%, IVS-I-5 (G --> C) 0.7%, frameshift codons 8/9 (SG) 0.4%, frameshiftcodons 36/37 (-T) 0.4%, frameshift codons 22/23/24 (-AAGTTGG) 0.3%, IVS-I-130 (G --> C) 0.4%. IVS-1-5 (G --> T) 0.2%, -28 (A --> C) 0.2%, codon 15 (TGG-TGA) 0.2%, and frameshift codons 82/83 (-G) 0.2%, were detected by sequence analysis. The codon 15 (TGG --> TGA) and frameshift codons 82/83 (- G) mutations were seen in Turkey for the first time