Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease

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/α^CSα genotype, followed by – ^SEA/α^QSα. 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.

KEYWORDS:

• Hemoglobin H (Hb H) disease
• mutation spectrum
• rare-type thalassemia
• thalassemia

Acknowledgments

The authors wish to thank their current laboratory members for their helpful comments on the manuscript.

Author contributions

Shiqiang Luo designed the study, performed experimental studies and drafted the manuscript. Xingyuan Chen compiled the data, contributed to writing and helped in drafting the manuscript. Lizhu Chen, Qingyan Zhong and Qiuhua Wang contributed to revising the manuscript, Zehui Xu and Jun Huang performed experimental studies, Tizhen Yan and Ning Tang performed analysis and provided valuable suggestions and clinical outputs. All authors read and approved the final manuscript.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose

Additional information

Funding

This work was supported by the National Natural Science Foundation of China: Grant No. 81360091; Scientific Research Fund of the Health and Family Planning Commission of Guangxi Zhuang Autonomous Region: Grant No. Z20170528; and the Liuzhou Science Technology Innovation Capability and Conditions Construction Project: Grant No. 2014G020404 and 2018AF10501.