Analysis of alpha 1 and alpha 2 globin genes among patients with hemoglobin Adana in Malaysia

作者：Lee T Y; Lai M I; Ismail P; Ramachandran V; Tan J A M A; Teh L K; Othman R; Hussein N H; George E^*

来源：Genetics and Molecular Research, 2016, 15(2): 15027400.

DOI：10.4238/gmr.15027400

• Hb Adana
• alpha-thalassemia
• alpha-globin genes
• RFLP-PCR
• Genotyping

Hemoglobin (Hb) Adana [HBA2: c179G>A (or HBA1); p. Gly60Asp] is a non-deletional alpha-thalassemia variant found in Malaysia. An improvement in the molecular techniques in recent years has made identification of Hb Adana much easier. For this study, a total of 26 Hb Adana alpha-thalassemia intermedia and 10 Hb Adana trait blood samples were collected from patients. Common deletional and non-deletional alpha-thalassemia genotypes were determined using multiplex gap polymerase chain reaction (PCR) and multiplex ARMS PCR techniques. Identification of the Hb Adana location on the alpha-globin gene was carried out using genomic sequencing and the location of the mutation was confirmed via restriction fragment length polymorphism-PCR. Among the 36 samples, 24 (66.7%) had the -alpha(3.7)/alpha(Cd59)alpha mutation, while the -alpha(3.7)/alpha(Cd59)alpha mutation accounted for 2 samples (5.6%) and the remaining 10 (27.8%) samples were alpha/alpha(Cd59)alpha. All 36 samples were found to have the Hb Adana mutation on the alpha 2-globin gene. The position of the alpha-globin gene mutation found in our cases was similar to that reported in Indonesia (16%) but not to that in Turkey (0.6%). Our results showed that the Hb Adana mutation was preferentially present in the alpha 2-globin genes in Malays compared to the other ethnicities in Malaysia. Thus, the Malays might have similar ancestry based on the similarities in the Hb Adana position.

• 出版日期2016