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

Liqiu Pan; Yuling Qiu; Lihua Ye; Linlin Li; Yuanyuan Huang; Wuning Mo; Faquan Lin

doi:10.1093/labmed/lmae023

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

Lab Med. 2024 Apr 6:lmae023. doi: 10.1093/labmed/lmae023. Online ahead of print.

Authors

Liqiu Pan^{1

2}, Yuling Qiu³, Lihua Ye⁴, Linlin Li^{1

2}, Yuanyuan Huang⁵, Wuning Mo^{1

2}, Faquan Lin^{1

2}

Affiliations

¹ Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
² Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Guangxi Medical University, Nanning, China.
³ Guangxi Key Laboratory of Thalassemia Research, Guangxi Medical University, Nanning, China.
⁴ Department of Clinical Laboratory, Laibin Maternal and Child Health Care Hospital, Laibin, China.
⁵ Department of Clinical Laboratory, Liuzhou Maternal and Child Health Hospital, Liuzhou, China.

PMID: 38581097
DOI: 10.1093/labmed/lmae023

Abstract

Background: Hemoglobin (Hb) Hekinan II (A27; Glu-Asp) is an α-chain variant, and its interaction with the common Southeast Asian (--SEA/) α-thalassemia (α-thal) deletion is rarely reported. This study provides a clinical update of Hb Hekinan II associated with (--SEA/) α-thal.

Methods: A total of 11 simple heterozygotes and 20 composite heterozygotes for Hb Hekinan II and (--SEA/) α-thal were included based on molecular diagnosis.

Results: Hb Hekinan II exhibited a significant increase in hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin content, but a decrease in red blood cell level compared with α+ thalassemia deletion. Compared with (--SEA/) α-thal, composite heterozygotes for Hb Hekinan II and (--SEA/) α-thal showed similar erythrocyte parameters. Both heterozygotes with and without (--SEA/) α-thal showed low Hb A2 level. Hb Hekinan II showed abnormal performance in high-performance liquid chromatography but not in capillary electrophoresis.

Conclusion: 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.

Keywords: Hb Hekinan II; compound heterozygosity; hemoglobin; α-thalassemia.

Grants and funding

GJWJWDP202203/NHC Key Laboratory of Thalassemia Medicine