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MOLECULAR SPECTRUM OF α-THALASSEMIA IN TUNISIA: EPIDEMIOLOGY AND DETECTION AT BIRTH
We present the characterization of the molecular spectrum and frequency data of α-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (γ4) measurement forExpand
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Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects
We describe the molecular spectrum of α‐thalassemia mutations in a population sample of newborns in the South‐Iranian province of Hormozgan. Out of 660 randomly collected blood samples 218 (33%) hadExpand
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Molecular Basis of Hb H Disease in Southwest Iran
Although α0-thalassemia (thal) defects are not very frequent in the Iranian population, Hb H disease does occur in the country. We have analyzed the α gene cluster of 13 patients showing the presenceExpand
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Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth.
We present the characterization of the molecular spectrum and frequency data of alpha-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (gamma4)Expand
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Hb H Disease Among Tunisians: Molecular Characterization of α‐Thalassemia Determinants and Hematological Findings
α‐Thalassemia (thal) is one of the most common genetic disorders in man. It results from defects in the α‐globin genes, and is characterized by absent or decreased rate of α‐globin synthesis in fet...
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Frequency and spectrum of hemochromatosis mutations in Tunisia.
The occurrence of the C282Y and H63D mutations of the HFE gene, responsible for toxic iron overload in the liver (hereditary hemochromatosis), was still unknown in Tunisia. We report the screening ofExpand
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Microsatellite and Single Nucleotide Polymorphisms in the β-Globin Locus Control Region-Hypersensitive Site 2: Specificity of Tunisian βS Chromosomes
The diversity of sickle cell disease severity is attributed to several cis acting factors, among them the single nucleotide polymorphisms (SNPs) and (AT) rich region in the β-locus control regionExpand
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Rare thalassemic syndrome caused by interaction of Hb Questembert (α1 codon 131, TCT>CCT, Ser>Pro) with an α-thalassemia-2 deletion: implications for diagnosis and management
Abstract Abnormal globin chain biosynthesis may result in deficient quantity (thalassemia) or structural variation (abnormal hemoglobins) and traditionally, they represent two phenotypically distinctExpand
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Hb A2-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]: A New δ Chain Variant Detected by DNA Sequencing in a Tunisian Carrier of the Codon 39 (C→T) β0-Thalassemia Mutation
We describe a new δ-globin variant, Hb A2-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A2 and was expressed at 2.2 %. TheExpand
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A New δ Chain Variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A], Observed in a Tunisian Family in Association with a Compound Heterozygosity for Hb C [β6(A3)Glu → Lys; HBB: c.19G>A]
Abstract We describe a new δ-globin variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A]. This hemoglobin (Hb) variant displayed a faster electrophoretic mobility than normal Hb A2 and wasExpand
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