Table 1.

α-Globin gene mutation spectrum

Mutation type	HGVS name	Number	Ratio (%)	Class
--SEA	NG_000006.1:g.26264_45564del19301	96	42.1	Common
-α3.7	NG_000006.1:g.34164_37967del3804	61	26.8	Common
Hb Westmead	HBA2: c.369C>G	24	10.5	Common
-α4.2	NA	20	8.8	Common
Hb Constant Spring	HBA2: c.427T>C	9	3.9	Common
Hb Quong Sze	HBA2: c.377T>C	4	1.8	Common
Hb G-Honolulu	HBA2: c.91G>C	4	1.8	Rare
Hb Hekinan II	HBA1: c.84G>T	3	1.3	Rare
HBA2: c.46G>A	HBA2: c.46G>A	2	0.9	Rare
Hb Owari	HBA1: c.364G>A	2	0.9	Rare
HBA2: c.190G>A	HBA2: c.190G>A	1	0.4	Rare
HBA1: c.412A>G	HBA1: c.412A>G	1	0.4	Novel
Alpha2 codon 30 del GAG	HBA2: c.91_93delGAG	1	0.4	Rare
Total		228	100