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

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

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

HB H-DISEASE IN A TURKISH FAMILY RESULTING FROM THE INTERACTION OF A DELETIONAL ALPHA-THALASSEMIA-1 AND A NEWLY DISCOVERED POLY-A MUTATION

WOS: A1992HM87600017PubMed ID: 1581238We have analysed the alpha-globin gene defects present in several members of a large family from Southern Turkey. One deletional alpha-thalassaemia-1 (type MED-II) was found in 10 subjects; this deletion is in excess of 26.5 kb and includes all zeta- and alpha-globin genes. Besides the common types of deletional alpha-thalassaemia-2 (-3.7 kb and -4.2 kb) we observed a nondeletional alpha-thalassaemia-2 that results from an A --> G mutation (AATAAA --> AATGAA) in the polyadenylation signal of the alpha-2-globin gene; the same A --> G replacement is present in the psi-alpha-l gene. The mutation must cause a considerable alpha-chain deficiency as is evidenced by the haematological data for five members with Hb H disease due to a compound heterozygosity for alpha-thalassaemia-1 (MED-II) and the newly discovered poly A mutation. Several members had additional beta-chain abnormalities (Hb S, Hb D-Los Angeles, beta-thalassaemia); the 11 persons with a Hb S heterozygosity and various alpha-globin gene defects (-alpha/alpha-alpha; alpha(T)alpha/alpha-alpha, - -/alpha-alpha, -alpha/-alpha and - -/alpha(T)alpha) showed a decrease in the level of Hb S that was directly related to the severity of the alpha-chain deficiency.NHLBI NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI) [HLB-41544, HLB-05168