Homozygous Mutation on the ß-Globin Polyadenylation Signal in a Tunisian Patient with ß-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome.
Hemoglobin
; 41(2): 147-150, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-28592168
ABSTRACT
We report here the clinical, hematological and molecular data in a 50-year-old patient with ß-thalassemia intermedia (ß-TI) caused by a homozygous ß+ mutation on the ß-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). ß Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is associated with the [- - - - + + +] ß haplotype and framework 1 (CCGCT) (FW1). This mutation was previously reported in the heterozygous state in association with the codon 9 (+TA) mutation in a ß-TI patient originating from Tunisia. To the best of our knowledge, this is the first report describing this mutation in the homozygous state. The case reported here, coinherited Gilbert's syndrome, which is characterized by hyperbilirubinemia. This conclusion was reached by the investigation of the promoter region [A(TA)nTAA] motif of the UGT1A1 gene, showing the (TA)6/(TA)7 genotype.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Glucuronosiltransferase
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Talassemia beta
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Sinais de Poliadenilação na Ponta 3' do RNA
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Globinas beta
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Doença de Gilbert
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Mutação
Limite:
Humans
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Male
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Middle aged
País/Região como assunto:
Africa
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Tunísia