PMC5107622_01
Sanger sequencing of the HBB gene, alkaline Hb electrophoresis (see Table 1) and peripheral blood smear (Wright stain, x1,000) in the Hb E family. (A) Normal findings. (B) Homozygous Hb E (c.79G>A; p.Glu27Lys) variant, increased Hb F and Hb A2 fractions, and many target cells. (C) Heterozygous Hb E, increased Hb A2 and some target cells. (D) Heterozygous Hb E, increased Hb F and Hb A2, and some target cells.
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F1
Peripheral blood smear examination revealed microcytic hypochromic anemia with target cells (Fig. 1). A family study revealed Hb E heterozygosity in the proband's two children (Fig. 1).