Molecular epidemiological investigation of abnormal hemoglobin in Shaokwan region, southern China

Figures & data

Figure 1. Sequencing results of eight kinds of hemoglobin variants. The mutation sites were indicated by arrows. A: Hb Q-Thailand (HBA1:c.223G > C); B: Hb G-Chinese (HBA2:c.91G > C); C: Hb J-Broussais (HBA2:c.273G > T); D: Hb G-Taipei (HBB:c.68A > G); E: Hb Ottawa (HBA1:c.46G > C); F: Hb New York (HBB:c.341T > A); G: Hb G-Coushatta (HBB:c.68A > C); H: Hb J-Bangkok (HBB:c.170G > A).

Table 1. The 45 cases of hemoglobin variants detected by electrophoresis and gene sequencing.

Hemoglobin variants	HGVS name	Residue	Substitution	Ele group	No.	Percentage
α-globin gene mutation
Hb J-Broussais	HBA2:c.273G > T	90(FG2)	Lys > Asn	J	2	4.44%
Hb G-Chinese	HBA2:c.91G > C	30(B11)	Glu > Gln	D	6	13.33%
Hb Ottawa	HBA1:c.46G > C	15(A13)	Gly > Arg	D	1	2.22%
Hb Q-Thailand	HBA1:c.223G > C	74(EF3)	Asp > Asn	Q	16	35.56%
β-globin gene mutation
Hb J-Bangkok	HBB:c.170G > A	56(D7)	Gly > Asp	J	3	6.67%
Hb New York	HBB:c.341T > A	113(G15)	Val > Glu	K	6	13.33%
Hb G-Coushatta	HBB:c.68A > C	22(B4)	Glu > Ala	G	3	6.67%
Hb G-Taipei	HBB:c.68A > G	22(B4)	Glu > Gly	G	1	2.22%
Hb E	HBB:c.79G > A	26(B8)	Glu > Lys	E	7	15.56%
Total					45	100%

Ele: electrophoresis.

Figure 2. The historical migration waves of Hakka (Shaokwan was marked with ★ in the map).

Figure 3. The distribution of Hakka population in Modern China. (a) The main inhabitant region of Hakka in southern China. (b) The distribution of Hakka in Shaokwan and its neighboring cities.