Table 3.

Genotype of thalassemia in Quanzhou area.

	Genotype	Phenotype	Subjects (n)	Frequency (%)
α-thalassemia
	αQSα/αα	Silent carrier	9	0.84
	αCSα/αα	Silent carrier	5	0.46
	αWSα/αα	Silent carrier	4	0.37
	-α3.7/αα	Silent carrier	105	9.76
	-α4.2/αα	Silent carrier	23	2.14
	--SEA/αα	Minor	521	48.42
	-α3.7/-α3.7	Minor	1	0.09
	Subtotal		668	62.08
	--SEA/-α3.7	Intermedia	38	3.53
	--SEA/-α4.2	Intermedia	3	0.28
	--SEA/αCSα	Intermedia	2	0.19
	--SEA/αQSα	Intermedia	2	0.19
	--SEA/-α27.6	Intermedia	1	0.09
	HKαα/-SEA	Intermedia	1	0.09
	Subtotal		47	4.37
β-thalassemia
	βIVS−II−654 (C→T)/βN	Minor	142	13.20
	βCD41-42 (−TTCT)/βN	Minor	118	10.97
	βCD17 (A→T)/βN	Minor	53	4.93
	β−28 (A→G)/βN	Minor	9	0.84
	βCD71-72 (+A)/βN	Minor	8	0.74
	βCD27-28 (+C)/βN	Minor	5	0.46
	βCAP+40-43(−AAAC)/βN	Minor	1	0.09
	βCD43 (G→T)/βN	Minor	1	0.09
	βInt (ATG→AGG)/βN	Minor	1	0.09
	βCD26 (G→A)/βN	Minor	7	0.65
	Subtotal		345	32.06
	βCD41-42 (−TTCT)/βCD41-42 (−TTCT)	Major	2	0.19
	βIVS−II−654 (C→T)/βCD41-42 (−TTCT)	Major	1	0.09
	βIVS−II−654 (C→T)/βCD26 (G→A)	Major	1	0.09
	Subtotal		4	0.37
α with β-thalassemia
	--SEA/αα/βCD41-42 (−TTCT)/βN	Minor	3	0.28
	--SEA/αα/βIVS−Ⅰ−1 (G→T)/βN	Minor	1	0.09
	-α3.7/αα/βIVS−II−654 (C→T)/βN	Minor	3	0.28
	-α3.7/αα/βCD17 (A→T)/βN	Minor	1	0.09
	-α3.7/αα/βCD41-42 (−TTCT)/βN	Minor	2	0.19
	-α4.2/αα/β−28(A→G) /βN	Minor	1	0.09
	--SEA/-α3.7/βCD41-42 (−TTCT)/βN	Intermedia	1	0.09
	Subtotal		12	1.12
	Total		1076	100

Abbreviations: SEA, Southeast Asian deletion; HK, HongKong deletion; CS, Hb Constant Spring; QS, Hb Quong Sze; WS, Hb Westmead; α⁰ indicates the absence of α-globin peptide chain synthesis. α⁺ indicates a decrease in α-globin peptide chain synthesis. α means no mutation. β⁰ indicates the absence of β-globin peptide chain synthesis; β⁺indicates a decrease in β-globin peptide chain synthesis; N indicates no mutation.