Table 2.

β-Globin gene mutation spectrum

Mutation type	HGVS name	Number	Ratio (%)	Class
Codons 41/42 (-TTCT)	HBB: c.124_127delTTCT	29	35.8	Common
IVS-II-654 (C>T)	HBB: c.316–197C>T	14	17.3	Common
Codon 17 (A>T)	HBB: c.52A>T	8	9.9	Common
−28 (A>G)	HBB: c.-78A>G	7	8.6	Common
−50 (G>A)	HBB: c.-100G>A	5	6.2	Novel
Hb E	HBB: c.79G>A	4	4.9	Common
HBB: c.*+129T>A	HBB: c.*+129T>A	3	3.7	Novel
Codons 71/72 (+A)	HBB: c.216_217insA	3	3.7	Common
Codon 43 (G>T)	HBB: c.130G>T	2	2.5	Common
HBB: c.-64G>C	HBB: c.-64G>C	2	2.5	Novel
HBB: c.-180G>C	HBB: c.-180G>C	1	1.2	Novel
HBB: c.*+5G>A	HBB: c.*+5G>A	1	1.2	Novel
Hb New York	HBB: c.341T>A	1	1.2	Rare
HBB: c.-113A>G	HBB: c.-113A>G	1	1.2	Novel
Total		81	100