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A clinical update of compound heterozygosity for hemoglobin Hekinan II [a27(B8)Glu-Asp; HBA1: c.84G>T] variant in China.

Liqiu PanYuling QiuLihua YeLinlin LiYuanyuan HuangWuning MoFaquan Lin
Published in: Laboratory medicine (2024)
Hb Hekinan II is a benign Hb variant. The heterozygotes exhibit clinically asymptomatic coinheritance with (--SEA/) α-thal having comparable hematological phenotype to simple (--SEA/) α-thal. The combination of hematological and molecular analysis helped to improve the detection rate of this rare variant.
Keyphrases
  • label free
  • red blood cell