Different Types of Beta-Thalassemia Intermedia

Aksoy, Muzaffer; Dınçol, Günçağ; Erdem, Simge

doi:10.1159/000207760

Cited by 33 publications

(9 citation statements)

References 9 publications

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“…Since beta-thalassemia is the most common single gene defect in Turkey, with a frequency of 2% heterozygous individuals, many studies have been done to investigate its molecular basis [6, 7, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24]. In our study, the distribution of mutation types was consistent with the findings of other research groups.…”

Section: Discussionsupporting

confidence: 90%

Mutational Analysis of Beta-Thalassemia Cases from the Aegean Region of Turkey Using an Allele-Specific Oligonucleotide Hybridization Technique

Güleşken

Ören²,

Vergin³

et al. 2000

Acta Haematol

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The aim of the present study was to evaluate the point mutations of beta-thalassemia patients from the Aegean region of Turkey by using an allele-specific oligonucleotide hybridization technique. DNA isolated from peripheral blood samples of 75 children with beta-thalassemia major or intermedia was analyzed using a Bio-Rad mD_x^TM-Be Tha Gene 1 kit. We determined mutations in 56 (74.6%) patients. The allelic frequency of mutations in 150 chromosomes was as follows: IVS-I-110 (G–A) 44.1%, IVS-I-1 (G–A) 28.2%, IVS-I-6 (T–C) 13.3%, IVS-II-745 (C–G) 9.3%, IVS-II-1 (G–A) 2.7%, Cd 39 (C–T) 2.4%, –87 (C–G) 0% and Cd 6 (–A) 0%. The distribution of the mutation types was consistent with the findings of other research groups.

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Section: Discussionsupporting

confidence: 90%

Mutational Analysis of Beta-Thalassemia Cases from the Aegean Region of Turkey Using an Allele-Specific Oligonucleotide Hybridization Technique

Güleşken

Ören²,

Vergin³

et al. 2000

Acta Haematol

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“…A.) encountered several /Mhalassaemic heterozygotes show ing normal MCV \Aksoy et al, 1961, 1978b, Therefore, we are inclined to sug gest that although in the great majority of /Mhalassaemic heterozygotes MCV is strik ingly reduced, occasionally one encounters /Mhalassaemic individuals with normal MCV. On the other hand, of the red cell indices MCHC was reduced in 74% of 164 /Mhalassaemic individuals.…”

Section: Discussionmentioning

confidence: 74%

Beta-Thalassaemia with Increased Haemoglobin A<sub>2</sub> in Turkey

1979

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Clinical and haematological findings of 164 Turkish β-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-A, 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 β-thalassaemia with increased Hb-A₂ is the most frequent variety of thalassaemia in Turkey (80%) and both β⁺- and β-°-thalassaemia genes were present in this country. The regional distribution of β-thalassaemia in Turkey is also presented and the origin of β-thalassaemia genes in Turkish people is discussed.

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“…Three of the thalassemic patients (patients l, 3 and 5) were described elsewhere (12). Three of the thalassemic patients (patients l, 3 and 5) were described elsewhere (12).…”

Section: Methodsmentioning

confidence: 99%

Effect of Transferrin Absence on in Vitro Globin Chain Synthesis in Reticulocytes of β-Thalassemic Patients

et al. 1983

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The effect of transferrin absence on in vitro globin chain synthesis and on the alpha/beta ratio were investigated in four patients with beta-thalassemia intermedia and one heterozygote with "silent" beta-thalassemia. With one exception the lack of transferrin in the incubation medium resulted in the reduction of the globin alpha/beta ratio which paralleled a reduction in overall protein synthesis. In one patient with beta-thalassemia intermedia, however, the absence of transferrin failed to affect this ratio.

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Different Types of Beta-Thalassemia Intermedia

Cited by 33 publications

References 9 publications

Mutational Analysis of Beta-Thalassemia Cases from the Aegean Region of Turkey Using an Allele-Specific Oligonucleotide Hybridization Technique

Mutational Analysis of Beta-Thalassemia Cases from the Aegean Region of Turkey Using an Allele-Specific Oligonucleotide Hybridization Technique

Beta-Thalassaemia with Increased Haemoglobin A<sub>2</sub> in Turkey

Effect of Transferrin Absence on in Vitro Globin Chain Synthesis in Reticulocytes of β-Thalassemic Patients

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