Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [alpha52(E1)Ser->Cys (TCT>TGT); HBA1: C.158OG], and the - -SEA (Southeast Asian) alpha-Thalassemia Deletion

摘要

Here we report a 67-year-old Chinese male carrying an unstable novel hemoglobin (Hb) variant in compound heterozygosity with the —SEA (Southeast Asian) cc-thalassemia (a-thal) deletion. Hemoglobin analysis by capillary electrophoresis (CE) revealed a rapid degradation feature of the variant. Sanger sequencing of the Hb gene revealed a novel homozygous mutation in exon 2 of the ai-globin gene [a52(E1)Ser-+Cys (TCT>TGT); HBA1: c.158C>G]. We named this novel variant Hb Dongguan for the place of origin of the proband. Additionally, gap-polymerase chain reaction (gap-PCR) indicated the presence of the heterozygous - -SEA a-thal deletion.