Abstract:Abstract: Objective:To explore the inherited characteristics of a hemoglobin (Hb) Arya family. Methods:The red blood cell (RBC) parameters of the proband and his family members were detected by automatic hemocyte analyzer. Hemoglobin components were analyzed by using cellulose acetate electrophoresis and fetal hemoglobin alkali denaturation test combined with high performance liquid chromatography (HPLC). The common thalassemia gene mutations in Chinese population were examined by Gap-PCR and PCR reverse dot blot (PCR-RDB). The location of the mutation was confirmed by globin gene sequencing. Results:The RBC parameters of the proband and his family members were in normal range and all the common thalassemia gene mutations in Chinese population were undetectable. The proband and grandmother, father and uncle presented an abnormal slow band of Hb on cellulose acetate electrophoresis which accounted for 16.3%, 14.5%, 17.6% and 14.1% of the total hemoglobin, respectively. HPLC analysis indicated an aberrant chromatographic peak at the 4.34 min of retention time presented in the chromatograms, and the ratios of area were 16.9%, 14.8%, 18.2% and 15.6% of the total peak area, respectively. Globin gene sequencing demonstrated the same heterozygous mutation of GAC>AAC at codon 47 of α1-globin gene was found in the proband, his grandmother, father and uncle. Conclusion:The proband and his grandmother, father, uncle should be Hb Arya heterozygote. The genetic alterations does not cause obvious clinical manifestation and abnormality of RBC parameter.