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  • 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).
    Author: Saller E, Knijnenburg J, Harteveld CL, Dutly F.
    Journal: Hemoglobin; 2020 May; 44(3):214-217. PubMed ID: 32605393.
    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.
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