[Delta⁰-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A₂ levels].

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.
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.
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_228delGAC]. The decreased HbA2 percentage owes to an insertion of 27nt between nt 83 and 84 of IVS-I of the δ-globin gene.
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.
AuthorsMaria Luisa González Borrachero, Félix de la Fuente-Gonzalo, Fernando Ataúlfo González, Jorge M Nieto, Ana Villegas, Paloma Ropero
JournalMedicina clinica (Med Clin (Barc)) Vol. 144 Issue 7 Pg. 312-6 (Apr 08 2015) ISSN: 1578-8989 [Electronic] Spain
Vernacular TitleDelta(0)-talasemia por inserción de 27 pares de bases en el gen δ-globina con descenso de los valores de hemoglobina A2.
PMID25579773 (Publication Type: Case Reports, English Abstract, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2014 Elsevier España, S.L.U. All rights reserved.
Chemical References
  • Biomarkers
  • Hemoglobins, Abnormal
  • alpha-Globins
  • delta-Globins
  • hemoglobin Watts
  • Hemoglobin A2
  • Base Sequence
  • Biomarkers (blood)
  • Female
  • Hemoglobin A2 (genetics, metabolism)
  • Hemoglobins, Abnormal (genetics, metabolism)
  • Humans
  • Middle Aged
  • Mutagenesis, Insertional
  • Sequence Deletion
  • Spain
  • alpha-Globins (genetics)
  • delta-Globins (genetics)
  • delta-Thalassemia (blood, diagnosis, genetics)

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