Figure 1.
Geographic location of the Meizhou region and its surrounding areas.
A: The Meizhou region in southern China. B: The eight areas in the Meizhou region investigated in this study: Meizhou urban (A)/Meixian (B), Pingyuan(C)/Jiaoling(D) (north), Dabu (E) (west), Fengshun (F) (south) and Xingning (H)/Wuhua (G) (east).
Figure 2.
Diagram for the screening of hemoglobin variants, α/β-thalassemia and HPFH/δβ-thalassemia.
Table 1.
α, β, Aγ and Gγ gene globin primers for PCR and sequencing.
Figure 3.
Hemoglobin analysis of hemoglobin variants with cellulose acetate electrophoresis at pH = 8.6.
The electrophoresis phenomenon includes H, J, K, Normal, F/Q, G/D and E.
Figure 4.
DNA sequence of 9 kinds of hemoglobin variants. A:
Hb J-Broussais (HBA2:c.273G>T); B: Hb G-Chinese (HBA2:c.91G>C); C: Hb Hb J-Wenchang-Wuming (HBA2:c.34A>C); D: Hb Queens (HBA2:c.104T>G); E: Hb G-Siriraj (HBB:c.22G>A); F: Hb J-Bangkok (HBB:c.170G>A); G: Hb G-Waimanalo (HBA2:c.193G>A); H: Hb New York (HBB:c.341T>A); I: Hb Q-Thailand (HBA1:c.223G>C).
Table 2.
Hemoglobin variants among 15229 subjects from Meizhou region.
Figure 5.
Results of α and β thalassemia in gene chip. A:
The results of α and β thalassemia in the gene chip; B: The location of the probes dotted in the gene chip used for the reverse dot blot assay. Locations of wild-type and mutant probes are denoted N and M, respectively.
Table 3.
Population prevalence and genotypes of thalassemia among 1743 blood samples from Meizhou.
Figure 6.
Results of 2 cases of Vietnamese HPFH (FPFH-7) were identified by Gap-PCR.
Figure 7.
The MLPA result of Vietnamese HPFH (FPFH-7).
(1) The analysis of DNA product by ABI 3730 for Vietnamese HPFH; (2) Data histograms of Vietnamese HPFH.
Table 4.
Hematological and molecular findings of three cases of HF>5% samples.
Figure 8.
The MLPA result of Belgian Gγ(Aγδβ)0 -thalassemia.
(1) The analysis of DNA product by ABI 3730 for Belgian Gγ(Aγδβ)0 -thalassemia; (2) Data histograms of Belgian Gγ(Aγδβ)0 -thalassemia.