PMC3639694_01
Gel agarose electrophoresis of ARMS-PCR product (522 bp fragment) for the detection of codon 8 (-AA) mutation. Patient sample: lanes 1 and 5, negative (wild type), control: lanes 2 and 6, positive control: lanes 3 and 7,and ladder marker 100 bp: lane 4. Lanes 1, 2, and 3 represent PCR products amplified with primers binding normal allele, and lanes 5, 6, and 7 represent PCR products amplified with primers binding mutant allele.
CRIM.HEMATOLOGY2013-906292.001.jpg
PMC3639694_01_CRIM.HEMATOLOGY2013-906292.001.jpg
fig1
The result showed that the patient has codon 8 (-AA) mutation on heterozygote state, but another mutation causing beta thalassemia disorder remained unknown (Figure 1).
sequencing of beta globin gene showing location of +22 5UTR (G>A) mutation on beta globin gene.
CRIM.HEMATOLOGY2013-906292.002.jpg
PMC3639694_01_CRIM.HEMATOLOGY2013-906292.002.jpg
fig2
Result of the sequencing showed two mutations for the patient: codon 8 (-AA) and +22 5UTR (G>A) in compound heterozygote state (Figure 2).