Complex Interaction of Hb Q-Thailand with α0- and β0-Thalassemia in a Chinese Family. (2nd January 2017)

• Record Type: Journal Article
• Authors: He, Sheng; Qin, Qian; Lin, Li; Chen, Qiuli; Yi, Shang; Wei, Honhwei; Du, Juan; Zheng, Chenguang; Qiu, Xiaoxia; Chen, Biyan
• Is Part Of: Hemoglobin. Volume 41:Number 1(2017)
• Page Start: 68
• Page End: 72
• Publication Date: 2017-01-02
• Subjects: α0-Thalassemia (α0-thal) -- β0-thalassemia (β0-thal) -- genetic counseling -- hemoglobinopathies -- Hb Q-Thailand; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2017.1295985
• Languages: English
• ISSNs: 0363-0269

Abstract

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 α 0 -thalassemia (α 0 -thal) and in combination with β 0 -thalassemia (β 0 -thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.