Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease

Liubing Lan; Zhiyuan Zheng; Heming Wu

doi:10.2147/IJGM.S567328

Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease

Int J Gen Med. 2025 Dec 16:18:7547-7557. doi: 10.2147/IJGM.S567328. eCollection 2025.

Authors

Liubing Lan^{1

2}, Zhiyuan Zheng^{1

2}, Heming Wu^{1

2}

Affiliations

¹ Department of Prenatal Diagnostic Center, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, People's Republic of China.
² Meizhou Municipal Engineering and Technology Research Center for Molecular Diagnostics of Major Genetic Disorders, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, People's Republic of China.

Abstract

Background: Hemoglobin H (Hb H) disease is a common type of α-thalassemia, characterized by anemia caused by abnormal hemoglobin synthesis, and its hematological phenotype show significant heterogeneity. The purpose is to explore the relationship between genotypes and hematological parameters in Hb H disease, in order to provide scientific basis for the prevention and treatment of Hb H disease.

Methods: A total of 497 Hb H disease patients at Meizhou People's Hospital from December 2016 to December 2023, were retrospectively analyzed. Genotype testing was performed to determine the types of α-thalassemia and β-thalassemia. The hemoglobin, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and hemoglobin electrophoresis results of the patients were collected to evaluate their hematological manifestations. The relationship between genotypes and hematological manifestations was analyzed.

Results: There were 449 (90.3%) cases with deletional Hb H disease and 48 (9.7%) with non-deletional Hb H disease. The detection rate of Hb H was higher in patients with non-deletional Hb H disease than in those with deletional Hb H disease (73.8% vs 66.8%). The proportion of severe anemia in patients with Hb H disease combined with β-thalassemia was lower than that of patients with isolated Hb H disease (11.1% vs 26.9%). Non-deletional Hb H disease exhibited more severe anemia compared to those with deletional Hb H disease (low Hb, p=0.002), accompanied by significantly higher MCV (p<0.001) and MCH (p=0.001). The degree of microcytosis and hypochromia in Hb H disease patients without β-thalassemia is less severe than that in patients with β-thalassemia.

Conclusion: Non-deletional Hb H disease exhibited higher detection rate of Hb H and proportion of severe anemia, and patients with --^SEA/α^CSα have the highest proportion of severe anemia. There are differences in the genotypes distribution of Hb H disease among different populations.

Keywords: genotype; hematological parameters; hemoglobin H disease; thalassemia.