Hemoglobin H disease due to a de novo mutation at the alpha 2-globin gene and an inherited common alpha-thalassemia deletion found in a Chinese boy

作者：Zhu, Chunjiang; Yu, Wenfang; Xie, Jiansheng; Chen, Ling; Ding, Hui; Shang, Xuan; Xu, Xiangmin^*

来源：Blood Cells, Molecules, and Diseases, 2010, 45(3): 223-226.

DOI：10.1016/j.bcmd.2010.07.005

• De novo mutation
• Hemoglobin H disease
• alpha-Thalassemia

Hemoglobin (Hb) H disease is a moderate form of alpha-thalassemia resulting from various genetic defects. A novel frameshift mutation cd 43/44(-C) at the alpha 2-globin gene was identified in a Chinese boy with hemoglobin H disease by sequencing. The proband's mother carries a common alpha-thalassemia deletion while his father was normal both in the hematological phenotype and alpha-globin genotype, which suggested that it occurred as a de novo mutation. Molecular studies revealed a compound heterozygote for the Southeast Asian alpha-thalassemia deletion and this novel spontaneous mutation (-/alpha(T)alpha) and the patient exhibited the clinical manifestation of classic hemoglobin H disease. Based on the results of excluding the possibility of a somatic mosaicism of a point mutation in the alpha 2-globin gene, we progress that this de novo single-base deletion should have arisen during the spermatogenic process or earlier embryonic stage. The present study provides information in determining a supplementary model of inheritance for a-thalassemia, which should be useful in genetic counseling.

• 出版日期2010-10-15
• 单位桂林医学院; 深圳市妇幼保健院; 南方医科大学