Suksusut Amornchai, Jaitheang Jidapa, Prapphal Manussavee, Sutcharitchan Pranee, Rojnuckarin Ponlapat, Uaprasert Noppacharn
Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand.
Center of Excellence in Translational Hematology, Chulalongkorn University, Bangkok, Thailand.
Hematology. 2025 Dec;30(1):2456679. doi: 10.1080/16078454.2025.2456679. Epub 2025 Jan 29.
Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.
Hb variants were identified using isoelectric focusing (IEF) and HPLC. Hb Hekinan was confirmed by direct DNA sequencing. Additional genetic determinants, including α-thalassemia, β-thalassemia and other variants, were detected using multiplex GAP-PCR, ARMS-PCR or direct DNA sequencing as appropriate.
Among 61,997 Hb typing samples, 149 cases of Hb Hekinan were identified in Thai individuals and classified into 8 genotypic groups. These included 104 Hb Hekinan heterozygotes, 10 Hb Hekinan coexisting with α-thalassemia, 3 Hb Hekinan with non-deletional α-variants, 6 Hb Hekinan with α-thalassemia, 21 double heterozygote for Hb Hekinan and HbE, 3 Hb Hekinan with β-thalassemia trait, 1 triple heterozygotes (Hb Hekinan/α-thalassemia/Hb E) and 1 quadruple heterozygote for Hb Hekinan/α-thalassemia/Hb E/Hb Hope. Hb Hekinan was well-separated from Hb A using IEF but was frequently missed with HPLC. On HPLC, Hb Hekinan could only be identified when coexisting with α-thalassemia. All cases presented with either normal Hb levels or mild anemia.
Hb Hekinan is a prevalent α-globin variant that is often undetected by HPLC but reliably identified using IEF. These findings highlight the importance of incorporating IEF for accurate diagnosis of Hb Hekinan. Most cases are clinically benign, even when interacting with other thalassemia syndromes or Hb variants.
血红蛋白（Hb）赫基南是一种常见的α-珠蛋白变体，在使用高效液相色谱法（HPLC）或毛细管电泳的地中海贫血筛查中心经常被漏检。本研究旨在调查一大群人中Hb赫基南的血液学和分子特征。
使用等电聚焦（IEF）和HPLC鉴定Hb变体。通过直接DNA测序确认Hb赫基南。根据情况，使用多重间隙聚合酶链反应（GAP-PCR）、扩增受阻突变系统聚合酶链反应（ARMS-PCR）或直接DNA测序检测其他遗传决定因素，包括α地中海贫血、β地中海贫血和其他变体。
在61997份Hb分型样本中，在泰国人中鉴定出149例Hb赫基南，并分为8个基因型组。其中包括104例Hb赫基南杂合子、10例Hb赫基南与α地中海贫血共存、3例Hb赫基南与非缺失性α变体、6例Hb赫基南与α地中海贫血、21例Hb赫基南和HbE双杂合子、3例具有β地中海贫血特征的Hb赫基南、1例三重杂合子（Hb赫基南/α地中海贫血/Hb E）和1例Hb赫基南/α地中海贫血/Hb E/Hb霍普四重杂合子。使用IEF时，Hb赫基南与Hb A分离良好，但使用HPLC时经常漏检。在HPLC上，只有与α地中海贫血共存时才能鉴定出Hb赫基南。所有病例均表现为Hb水平正常或轻度贫血。
Hb赫基南是一种常见的α-珠蛋白变体，HPLC常无法检测到，但使用IEF可可靠鉴定。这些发现凸显了纳入IEF以准确诊断Hb赫基南的重要性。即使与其他地中海贫血综合征或Hb变体相互作用，大多数病例在临床上也是良性的。
