平均红细胞体积
复合杂合度
血红蛋白
平均红细胞血红蛋白浓度
平均红细胞血红蛋白
杂合子丢失
杂合子优势
无症状的
地中海贫血
化学
血红蛋白变体
分子生物学
内科学
遗传学
生物
生物化学
表型
医学
基因型
基因
等位基因
作者
Liqiu Pan,Yuling Qiu,Lihua Ye,Linlin Li,Yuanyuan Huang,Wuning Mo,Faquan Lin
出处
期刊:Labmedicine
[Oxford University Press]
日期:2024-04-06
标识
DOI:10.1093/labmed/lmae023
摘要
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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