THE SILENT CARRIER ALLELE: β-THALASSEMIA WITHOUT A MUTATION IN THE β-GLOBIN GENE REGION

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A 13-bp deletion in the 3' untranslated region of the β-globin gene causes β-thalassemia major in compound heterozygosity with IVSII-1 mutation.

OBJECTIVE To describe hematological and molecular features of a 13-bp deletion in the 3' untranslated region(3' UTR) of the β-globin gene in carrier individuals and a compound heterozygous patient. SUBJECTS AND METHODS Five members of an Iranian family of Persian ethnic origin were studied. Red blood cell indices and hemoglobin analysis were carried out according to standard methods. Genomic ...

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Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population

Objective(s): Iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. Molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. However, to date there is no reliable information on the application of the markers in the Iranian pop...

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Co-Inheritance of Beta & Delta-Globin Gene (HbYialousa) Mutations in an Iranian β-Thalassemia Carrier

Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalassemia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin...

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β-thalassemia for translating human β-globin gene and RNA interference of α-globin gene expression by lentivirus vectors

Objective: According to the characteristics of α/β-globin gene imbalance caused by α-globin gene accumulation in β-thalassemia, we designed two lentiviral vectors, that is, while we used the lentiviral to mediate full length human β-globin gene, we introduced the interference fragment of lentiviral α-globin gene to adjust the α/β chain ratio by increasing the expression of β-globin and decreasi...

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Transient Expression Assay of Aγ-588 (A/G) Mutations in the K562 Cell Line

Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1984

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-198404001-00931