Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China

Abstract

Ya-Ping Chen,1,2 Heng Wang,1,3 Lei Wang,4 Dan Xie,4 Min Guo,4 Jiang-Fen Wu,5 Bang-Quan An,6 Sheng-Wen Huang1,5 1School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, Guizhou, People’s Republic of China; 2Department of Clinical Laboratory, the Second People’s Hospital of Guiyang, Guiyang, Guizhou, People’s Republic of China; 3Guiyang Public Health Clinical Center, Guiyang, Guizhou, People’s Republic of China; 4Medical College of Guizhou University, Guiyang, Guizhou, People’s Republic of China; 5Medical Genetics Department, Guizhou Provincial People’s Hospital, Guiyang, Guizhou, People’s Republic of China; 6Department of Blood Transfusion, Guizhou Provincial People’s Hospital, Guiyang, Guizhou, People’s Republic of ChinaCorrespondence: Sheng-Wen Huang, Medical Genetics Department, Guizhou Provincial People’s Hospital, No. 83, East Zhongshan Road, Nanming District, Guiyang, Guizhou, 550002, People’s Republic of China, Tel [phone], Fax [phone], Email [email protected]: To analyze the composition of abnormal hemoglobin and the relationship between genotype and phenotype by screening abnormal hemoglobin in a subpopulation of Guizhou, China.Patients and Methods: Routine blood evaluation, capillary electrophoresis of hemoglobin, and mutation of α - and β - thalassemia genes were evaluated in 19,976 individuals for thalassemia screening in Guizhou. Sanger sequencing of HBA1, HBA2 and HBB genes was performed in samples with abnormal bands or unexplained increases of normal bands. The types of abnormal hemoglobin were obtained by sequence analysis.Results: Abnormal hemoglobin was detected in 84 individuals (detection rate, 0.42%). Ten types each of α and β globin chain variants were detected, including most commonly Hb E, Hb New York and Hb Port Phillip. In this study, the abnormal Hb Mizuho was identified for the first time in a Chinese population, and a novel abnormal hemoglobin Hb Guiyang (HBA2: c.151C > A) was detected for the first time. Except for Hb Mizuho, other abnormal hemoglobin heterozygotes without thalassemia or iron deficiency had no significant hematological changes.Conclusion: This study enriched the molecular epidemiological data of abnormal hemoglobin in Guizhou, China and provided reference data for genetic counseling and prenatal diagnosis of abnormal hemoglobin.Keywords: abnormal hemoglobin, routine blood examination, capillary electrophoresis, DNA sequencing, Hb Mizuho, HBA2

Keywords

• abnormal hemoglobin
• blood routine
• capillary electrophoresis
• dna sequencing
• hb mizuho
• hba2.