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.
CONCLUSIONS: 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.
方法:根据分子诊断,共纳入HbHekinanⅡ和(--SEA/)α-thal的11个简单杂合子和20个复合杂合子。
结果:HbHekinanII显示血红蛋白显著增加,平均红细胞体积,和平均红细胞血红蛋白含量,但与α+地中海贫血缺失相比,红细胞水平下降。与(--SEA/)α-thal相比,HbHekinanII和(-SEA/)α-thal的复合杂合子显示相似的红细胞参数。具有和不具有(-SEA/)α-thal的杂合子均显示较低的HbA2水平。HbHekinanII在高效液相色谱中显示异常性能,但在毛细管电泳中未显示异常性能。
结论:HbHekinanII是一种良性Hb变体。杂合子表现出与(-SEA/)α-thal具有与简单(-SEA/)α-thal相当的血液学表型的临床无症状共遗传。血液学和分子分析的结合有助于提高这种罕见变异的检出率。