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[Delta⁰-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A₂ levels].
- Source :
-
Medicina clinica [Med Clin (Barc)] 2015 Apr 08; Vol. 144 (7), pp. 312-6. Date of Electronic Publication: 2015 Jan 08. - Publication Year :
- 2015
-
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.<br />Patients and Method: 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.<br />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; HBA2:c.226&#95;228delGAC]. The decreased HbA2 percentage owes to an insertion of 27nt between nt 83 and 84 of IVS-I of the δ-globin gene.<br />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.<br /> (Copyright © 2014 Elsevier España, S.L.U. All rights reserved.)
- Subjects :
- Base Sequence
Biomarkers blood
Female
Hemoglobin A2 genetics
Hemoglobins, Abnormal genetics
Humans
Middle Aged
Sequence Deletion
Spain
alpha-Globins genetics
delta-Thalassemia blood
delta-Thalassemia diagnosis
Hemoglobin A2 metabolism
Hemoglobins, Abnormal metabolism
Mutagenesis, Insertional
delta-Globins genetics
delta-Thalassemia genetics
Subjects
Details
- Language :
- Spanish; Castilian
- ISSN :
- 1578-8989
- Volume :
- 144
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Medicina clinica
- Publication Type :
- Academic Journal
- Accession number :
- 25579773
- Full Text :
- https://doi.org/10.1016/j.medcli.2014.10.021