TABLE 5.

Allele frequency of β-thal in individuals of Yangjiang region.

Mutation	HGVS name	Phenotype	Allele (n)	Frequency (%)
CD41-42	HBB: c.126_129delCTTT	β0	1034	43.76
IVS-II-654	HBB: c.316–197C>T	β+	526	22.26
−28	HBB: c.-78A>G	β+	363	15.36
CD17	HBB: c.52A>T	β0	207	8.76
CD71-72	HBB: c.216_217insA	β0	95	4.02
−29	HBB: c.-79G>A	β+	24	1.02
CD27-28	HBB: c.84_85insC	β0	31	1.31
CD26	HBB: c.79G>A	β+	40	1.69
IVS-I-1	HBB: c.92 + 1G>T	β0	25	1.06
Cap	HBB: c.-11_-8delAAAC	β+	2	0.08
CD14-15	HBB: c.45_46insG	β0	4	0.17
CD43	HBB: c.130G>T	β0	12	0.50
Total			2363	100