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.
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.
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.
摘要：
背景：血红蛋白（Hb）HekinanII（A27;Glu-Asp）是一种α链变体，很少报道其与常见的东南亚（-SEA/）α-地中海贫血（α-thal）缺失的相互作用。这项研究提供了与（-SEA/）α-thal相关的HbHekinanII的临床更新。
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。
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。
