[Hematologic Phenotype and Genotype Analysis of Patients with Hemoglobin Variants].

Abstract

OBJECTIVE:

To study the hematologic and molecular features of 14 patients with hemoglobin (Hb) variants, so as to provide reference data for its laboratory screening.

METHODS:

A total of 1 029 samples were screened by high performance liquid chromatography (HPLC) on the Bio-Rad VariantⅡHPLC system. GAP-PCR and reverse dot blot (RDB) were used to detect common mutation of α and β globin gene in Chinese. DNA sequencing for α and β globin gene was simultaneously performed in samples with abnormal spectrum peak and negative thalassemia gene.

RESULTS:

In 1 029 samples, 10 types of structural Hb variants were detected in14 cases (1.36%), including 1 case of Hb E / β- thalassemia, 1 case of Hb E /α- thalassemia (HbH disease), 2 cases of HbG-Taipei, 2 cases of Hb Q-Thailand, 2 cases of Hb Youngstown, 1 case of Hb Guangzhou-Hangzhou, 1 case of Hb M-Boston, 1 case of Hb G-Siriraj, 1 case of Hb J-Baltimore, 1 case of Hb J-Sicilia and 1 case of Hb Tamano.

CONCLUSION:

The occurrence of abnormal structural Hb variants with many genotypes in Shanghai is unique. Except for Hb E, Hb Youngstown, and Hb M-Boston, other types of heterozygous are normal in phenotypes, and symptoms such as hemolysis and anemia often occur when other diseases are combined.

• Authors: Ye-Fei Wang, Bei-Ying Wu, Wen-Quan Xia, Ning Chen, Yi-Qun Hu
• Journal: Zhongguo shi yan xue ye xue za zhi (Zhongguo Shi Yan Xue Ye Xue Za Zhi) Vol. 29 Issue 4 Pg. 1280-1288 (Aug 2021) ISSN: 1009-2137 [Print] China
• PMID: 34362517 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• beta-Globins

Topics

• China
• Genotype
• Hemoglobins, Abnormal (genetics)
• Humans
• Phenotype
• alpha-Thalassemia
• beta-Globins (genetics)