A Woman with Missing Hb A 2 Due to a Novel (εγ)δβ 0 -Thalassemia and a Novel δ-Globin Variant Hb A 2 -Gebenstorf ( HBD : c.209G>A)
2020; Taylor & Francis; Volume: 44; Issue: 3 Linguagem: Inglês
10.1080/03630269.2020.1779739
ISSN1532-432X
AutoresElisabeth Saller, Jeroen Knijnenburg, Cornelis L. Harteveld, Fabrizio Dutly,
Tópico(s)Blood groups and transfusion
ResumoA 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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