Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, Guangdong, P.R. China.
Public Health Laboratory Centre, Kowloon, Hong Kong.
Clin Chem Lab Med. 2020 Jul 20;59(1):227-232. doi: 10.1515/cclm-2020-0767.
Hemoglobin (Hb) variant is one of the most common monogenic inherited disorders. We aimed to explore the prevalence and hematological and molecular characteristics of Hb variants in southern China.
We collected blood samples from all patients with suspected variants found during HbA1c measurement via a cation-exchange high-performance liquid chromatography system (Bio-Rad Variant II Turbo 2.0) or a capillary electrophoresis method (Sebia Capillarys). Hematological analysis, Sanger sequencing, and gap-PCR were performed for these samples.
Among the 311,024 patients tested, we found 1,074 Hb variant carriers, including 823 identified using Capillarys and 251 using Variant II Turbo 2.0, with a total carrier rate of 0.35%. We discovered 117 types of Hb variants (52 HBB, 47 HBA, and 18 HBD mutations) containing 18 new mutations. The most common variant found was Hb E, followed by Hb New York, Hb J-Bangkok, Hb Q-Thailand, Hb G-Coushatta, Hb G-Honolulu, Hb G-Taipei, and Hb Broomhill. Most heterozygotes for the Hb variant exhibited normal hematological parameters. However, most patients with compound heterozygotes for the Hb variant and thalassemia showed varied degrees of microcytic hypochromic anemia.
The prevalence of hemoglobin variants remains high and exhibits genetic diversity and widespread distribution in the population of southern China.
血红蛋白（Hb）变体是最常见的单基因遗传性疾病之一。本研究旨在探讨中国南方人群 Hb 变体的流行情况及血液学和分子特征。
我们收集了所有通过阳离子交换高效液相色谱系统（Bio-Rad Variant II Turbo 2.0）或毛细管电泳法（Sebia Capillarys）在 HbA1c 测量时发现的疑似变体患者的血液样本。对这些样本进行血液学分析、Sanger 测序和 gap-PCR。
在 311,024 名检测患者中，我们发现了 1,074 名 Hb 变体携带者，其中 823 名通过 Capillarys 发现，251 名通过 Variant II Turbo 2.0 发现，总携带率为 0.35%。我们发现了 117 种 Hb 变体（52 种 HBB、47 种 HBA 和 18 种 HBD 突变），其中包含 18 种新突变。最常见的变体是 Hb E，其次是 Hb New York、Hb J-Bangkok、Hb Q-Thailand、Hb G-Coushatta、Hb G-Honolulu、Hb G-Taipei 和 Hb Broomhill。大多数 Hb 变体的杂合子表现出正常的血液学参数。然而，大多数 Hb 变体和地中海贫血的复合杂合子患者表现出不同程度的小细胞低色素性贫血。
血红蛋白变体的流行率仍然很高，在中国南方人群中表现出遗传多样性和广泛分布。
