[Delta°-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A2 levels]. / Delta(0)-talasemia por inserción de 27 pares de bases en el gen δ-globina con descenso de los valores de hemoglobina A2.
Med Clin (Barc)
; 144(7): 312-6, 2015 Apr 08.
Article
em Es
| MEDLINE
| ID: mdl-25579773
ABSTRACT
BACKGROUND AND OBJECTIVE:
We describe a novel delta-thalassemia mutation causing decreased hemoglobin (Hb) A2 levels associated with Hb Watts, variant Hb resulting from a trinucleotide deletion in Spain. PATIENTS ANDMETHOD:
Hb variant analysis was performed by cation-exchange high performance liquid chromatography (HPLC) and capillary zone electrophoresis. Polymerase chain reaction and DNA sequence analyses were used to identify mutations in the δ- and α-globin genes.RESULTS:
Abnormal Hb was observed on capillary zone electrophoresis in Z6 and by cation-exchange HPLC a slower peak than HbA was observed at an retention time of 4.19min. This variant Hb is called Hb Watts [α2 74(EF3)Asp->0 or α2 75(EF4)Asp->0; HBA2c.226_228delGAC]. The decreased HbA2 percentage owes to an insertion of 27nt between nt 83 and 84 of IVS-I of the δ-globin gene.CONCLUSIONS:
When analyzing a chromatogram, the possibility of the existence of delta-thalassemia or an HbA2 variant should be considered, apart from alfa-, beta-thalassemia and structural haemoglobinopathies. To this end, each of the peaks and their percentages should be considered to allow for correct interpretation and to avoid misdiagnosis as much as possible.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobina A2
/
Hemoglobinas Anormais
/
Mutagênese Insercional
/
Talassemia delta
/
Globinas delta
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Middle aged
País/Região como assunto:
Europa
Idioma:
Es
Revista:
Med Clin (Barc)
Ano de publicação:
2015
Tipo de documento:
Article