Hb A 2 -Guangxi [δ79 (EF3) Asp→Asn, HBD : C.238G > A] and polyA + 70 ( HBD : C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family.

We report the molecular and hematological identifications of two novel δ-globin gene mutations found in Guangxi Zhuang Autonomous Region, China. Capillary electrophoresis of the proband showed 1.3% Hb A ₂ , accompanied by a minor unknown peak (0.7%) within the Z1 zone. High-performance liquid chromatography also revealed the presence of 1.5% Hb A ₂ and a 0.6% unknown peak. Routine genetic testing (Gap-PCR and reverse dot-blot hybridization) for common α-thalassemia was performed, and no mutations were observed. Sanger sequencing identified a heterozygous mutation for GAC > AAC at codon 79 ( HBD :c.238G > A) and G > A at polyA + 70 ( HBD :c.*200G > A) of the δ-globin gene. This variant was named Hb A ₂ -Guangxi [δ79 (EF3) Asp→Asn, HBD :c.238G > A] after the geographic origin of the proband.