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.
Acknowledgments
The authors would like to thank all family members for blood donation, personal communication and their written informed consent. Furthermore we would like to acknowledge Dr. Christoph Aegerter, general practitioner, for providing blood samples and his kind cooperation.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.