Complex Interaction of Hb Q-Thailand with α⁰- and β⁰-Thalassemia in a Chinese Family

Abstract

Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α^Q-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α⁰-thalassemia (α⁰-thal) and in combination with β⁰-thalassemia (β⁰-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.

Keywords:

• α⁰-Thalassemia (α⁰-thal)
• β⁰-thalassemia (β⁰-thal)
• genetic counseling
• hemoglobinopathies
• Hb Q-Thailand

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by Natural Science Foundation of China [81660034, 81260093], Natural Science Foundation of Guangxi [2016GXNSFAA380078], the Guangxi Science and Technology Project [Gui 14124004-1-5, Gui 1598012-21] and the Health Department of Guangxi Province [Z2014146, Z2011060, S201613].