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

IF 1 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY Labmedicine Pub Date : 2024-04-06 DOI:10.1093/labmed/lmae023

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

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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.

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中国血红蛋白 Hekinan II [a27(B8)Glu-Asp; HBA1: c.84G>T]复合杂合子变异的临床最新进展

背景血红蛋白（Hb）Hekinan II（A27；Glu-Asp）是一种α链变异型，其与常见的东南亚（--SEA/）α-地中海贫血（α-thal）缺失的相互作用很少见报道。本研究提供了与 (--SEA/) α-thal 相关的 Hb Hekinan II 的最新临床资料。方法根据分子诊断结果，共纳入了 11 例 Hb Hekinan II 和 (--SEA/) α-thal 简单杂合子和 20 例复合杂合子。结果与α+地中海贫血缺失型相比，Hb Hekinan II 血红蛋白、平均血球容积和平均血球血红蛋白含量显著增加，但红细胞水平下降。与(--SEA/)α-thal相比，Hb Hekinan II和(--SEA/)α-thal的复合杂合子显示出相似的红细胞参数。含(--SEA/) α-thal的杂合子和不含(--SEA/) α-thal的杂合子都显示出较低的Hb A2水平。Hb Hekinan II 在高效液相色谱法中表现异常，但在毛细管电泳中没有异常。结论 Hb Hekinan II 是一种良性 Hb 变异体。杂合子与 (--SEA/) α-thal 具有临床无症状的共遗传性，其血液学表型与单纯 (--SEA/) α-thal 相似。结合血液学和分子分析有助于提高这种罕见变异的检出率。

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来源期刊

Labmedicine 医学-医学实验技术

CiteScore

2.50

自引率

0.00%

发文量

155

审稿时长

>12 weeks

期刊介绍： Lab Medicine is a peer-reviewed biomedical journal published quarterly by the ASCP and Oxford University Press. The journal invites submission of manuscripts on topics related to clinical chemistry and microbiology, hematology, immunology, transfusion medicine, molecular diagnostics, cytology, histology, and laboratory administration and management. Original research, reviews, and case reports are considered for publication. Lab Medicine is indexed (under the title Laboratory Medicine) by the National Library of Medicine and is included in the PubMed database.