PropertyValue
?:abstract
  • A woman completely lacking Hb A2 on the high performance liquid chromatography (HPLC) analysis, presented with a novel deletional (εγ)δβ0-thal and a δ-globin gene variant. This combination causes a β-thalassemia (β-thal) minor phenotype. The woman was referred by a hematologist due to abnormal blood counts. Multiplex ligation-dependent probe amplification (MLPA) and microarray analysis showed a heterozygous, 177 kb long deletion that removed the locus control region enhancer plus the ε, Gγ and Aγ genes. Additional sequencing revealed a novel variant HBD: c.209G>A, p.Gly70Asp in the heterozygous state, called Hb A2-Gebenstorf. The combination of the two variants explains the lack of Hb A2 in this woman.
is ?:annotates of
?:creator
?:doi
?:doi
  • 10.1080/03630269.2020.1779739
?:journal
  • Hemoglobin
?:license
  • unk
?:pmid
?:pmid
  • 32605393.0
?:publication_isRelatedTo_Disease
?:source
  • Medline
?:title
  • A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A).
?:type
?:year
  • 2020-07-01

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