1. A clinical update of compound heterozygosity for hemoglobin Hekinan II [a27(B8)Glu–Asp; HBA1: c.84G>T] variant in China.
- Author
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Pan, Liqiu, Qiu, Yuling, Ye, Lihua, Li, Linlin, Huang, Yuanyuan, Mo, Wuning, and Lin, Faquan
- Subjects
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HIGH performance liquid chromatography , *ALPHA-Thalassemia , *ERYTHROCYTES , *RESEARCH funding , *AUTOANALYZERS , *MICROBIAL virulence , *HEMOGLOBINS , *POLYMERASE chain reaction , *GENETIC carriers , *DESCRIPTIVE statistics , *CAPILLARY electrophoresis , *MOLECULAR structure - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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