Genetic diseases of hemoglobin: diagnostic methods for elucidating β -thalassemia mutations

Tüzmen, Şükrü; Schechter, Alan N.

doi:10.1054/blre.2001.0147

Cited by 38 publications

(24 citation statements)

References 50 publications

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“…Beta talasemi, birçok Akdeniz ülkesinde ve Türkiye de sıklıkla gözlenen tek gen hastalıklarından olup, otozomal resesif geçiş gösteren, mikrositoz ve hemolitik anemi ile karakterize bir hastalıktır [1][2][3]. Dünyada her yıl 56.000 talasemili hasta doğmaktadır [4].…”

Section: Introductionunclassified

Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Öztuzcu¹,

Bay²,

Nacarkahya³

et al. 2016

J Clin Exp Invest

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Introduction: Beta-thalassemia is the most common autosomal recessive disease. More than 200 different mutations determined in beta-globin gene. Beta thalassemia disease has a severe clinical picture. Treatment of the diseases should be maintained properly otherwise quality of life and life period can be affected. In this study, we tried to reveal inherited beta-thalassemia mutations in surrounding areas of Gaziantep.

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Section: Introductionunclassified

Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Öztuzcu¹,

Bay²,

Nacarkahya³

et al. 2016

J Clin Exp Invest

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“…While the rate of β-thalassemia carriers is 2% in overall country, but in some regions of Turkey ratio can be increase up to 10%. In much of the population (in a geographic area or ethnic groups), more than 90% of cases have been found to be limited by mutation of 5 to 6, which are the most commonly detected mutations such as IVS I-110 (G → A), IVS I-6 (T → C), IVS II-745 (C → G), IVS I-1 (G → A), FSC-8 (-AA), IVS II-1 (G → A) [1]- [6].…”

Section: Introductionmentioning

confidence: 99%

Codon 8 (-AA) and Codons 22/23/24 (-AAGTTGG) Compound Heterozygous Deletion Mutation in the β-Globin Gene: The First Report in Turkey

Polat¹,

Evliyaoğlu²,

Mete³

et al. 2016

OALib

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“…They are classified according to the type of deficient globin chain as ␣-and ␤-thalassemia (30). In ␤-thalassemia, the severity of the pathophysiology depends on the level of ␤-globin chain deficiency, which leads to an excess of ␣-globin chains (32).…”

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confidence: 99%

Characterization of circulatory disorders in β-thalassemic mice by noninvasive ultrasound biomicroscopy

Stoyanova

Trudel

Felfly

et al. 2007

Physiological Genomics

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␤-Thalassemia is an inherited hematological disease caused by a decrease or absence of production of ␤-globin that requires chronic therapeutic interventions. This condition leads to important arterial and venous thromboembolic events, transitory ischemic attacks, and microcirculatory obstructions, indicative of circulatory disturbances. To investigate the presence of microcirculatory disorders without the confounding effect of treatments, we used ␤-thalassemic mice with typical clinical characteristics of human ␤-thalassemia major. One impediment to the understanding of microcirculatory physiology, in particular for ␤-thalassemic mice, has been the lack of an appropriate noninvasive imaging approach. We thus developed a novel noninvasive high-frequency ultrasound imaging method to evaluate murine vascular hemodynamic properties. In our ␤-thalassemic mice, total peripheral vascular resistance was significantly increased (P Ͻ 0.01) compared with wildtype littermates, whereas mean blood pressure, heart rate, and cardiac output were similar (P ϭ nonsignificant). Importantly, the vascular hemodynamics in ␤-thalassemic mice were significantly affected according to the Pourcelot indexes measured in the common carotid artery and abdominal aorta (P Ͻ 0.01 and P Ͻ 0.05, respectively). Hence, our ␤-thalassemia characterization of vascular hemodynamics by noninvasive ultrasonic approaches proves the existence and provides unique quantitative assessment of microcirculatory flow disturbances in those mice.high-frequency ultrasonography; vascular resistance; blood flow; hemodynamics

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Genetic diseases of hemoglobin: diagnostic methods for elucidating β -thalassemia mutations

Cited by 38 publications

References 50 publications

Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Codon 8 (-AA) and Codons 22/23/24 (-AAGTTGG) Compound Heterozygous Deletion Mutation in the β-Globin Gene: The First Report in Turkey

Characterization of circulatory disorders in β-thalassemic mice by noninvasive ultrasound biomicroscopy

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