Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease
Shiqiang Luo, Xingyuan Chen, Lizhu Chen, Qingyan Zhong, Qiuhua Wang, Zehui Xu, Jun Huang, Tizhen Yan, Ning Tang
Abstract
Objectives We analyzed hemoglobin (Hb) levels and degree of anemia in relation to genotype in patients with hemoglobin H (Hb H) disease, thereby providing a scientific basis for the prevention and treatment of Hb H disease in the Guangxi region of China.Methods Hb analysis was conducted in 615 patients using high performance liquid chromatography. Seven α-thalassemia and 17 β-thalassemia genotypes commonly found in the Chinese population were detected by Gap-polymerase chain reaction and reverse dot hybridization. Multiple ligation-dependent probe amplification and sequencing were used to detect α-globin gene.Results On analyzing the degree of anemia, we found that the proportion of severe and moderate anemia was the highest among cases with – SEA/αCSα genotype, followed by – SEA/αQSα. When Hb H disease was present in combination with β-thalassemia, the clinical symptoms of most patients were milder than those with simple Hb H disease.Conclusion The clinical manifestations of various types of Hb H disease are heterogeneous; the Hb levels of patients with deletional Hb H are generally higher than those with non-deletional Hb H (P < 0.05). In-depth knowledge of the gene mutation spectrum of thalassemia in Guangxi can provide a basis for genetic counseling of couples and enable prenatal diagnosis.