PMC3971804_01
Pedigree of the family. The codon 59 (HBA2: c.179G > A) mutation was found in the mother (I-1), the second child (II-2) and the fetus (II-3), whereas the novel codon 24 (HBA2: c.75T > A) mutation was carried by the father (I-2) and in compound heterozygosity by the second child (II-2).
HEM-38-149-g001.jpg
PMC3971804_01_HEM-38-149-g001.jpg
f1
The pedigree of the family is depicted in Figure 1. 
Sequencing result of the alpha2-globin gene in the father showing heterozygosity for codon 24 (HBA2: c.75T > A).
HEM-38-149-g002.jpg
PMC3971804_01_HEM-38-149-g002.jpg
f2
Sequencing Kit (Applied Biosystems, Foster City, CA, USA) on the ABI PRISM  3130 Genetic Analyzer (Applied Biosystems). Sequencing results revealed that the father was heterozygous for the novel mutation at codon 24 of the alpha2-globin gene (Figure 2).
PMC3971804_02