Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-ß-thalassaemia syndrome.
J Clin Pathol
; 72(4): 322-324, 2019 Apr.
Article
em En
| MEDLINE
| ID: mdl-30630871
ABSTRACT
Interaction of ßE-globin gene with an in trans ß-thalassaemia gene leads to thalassaemia syndrome, known as haemoglobin (Hb) E-ß-thalassaemia disease, with variable clinical and haematological severity. Here, we reported for the first time the Hb E-ß-thalassaemia syndrome caused alternatively by an in cis interaction of ßE and a novel IVSI#7;A>G mutation, namely the Hb E-Udon Thani (HBBc.[79G>A;92+7 A>G]). The syndrome was found in an adult Thai man (32) who was generally healthy but had an unexplained hypochromic microcytosis. Hb analysis identified heterozygous Hb E with very low Hb E expression (3.1%) and elevated Hb A2 (5.7%). Final diagnosis was made on DNA analysis, which confirmed a double mutation in a single ß-globin gene of the patient. A multiplex allele-specific PCR assay was developed for use in the screening of this novel form of Hb E-ß-thalassaemia in the population.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobina E
/
Talassemia beta
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
/
Humans
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Male
Idioma:
En
Revista:
J Clin Pathol
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Tailândia