Hi, I am from Bangladesh. My son's age is 1year and 4months. We conducted two tests which results are as follows:
Hb Electrophoresis test result:
Hb F 20.7%
Hb E 75.5%
Hb A2 3.80%
Mutation Testing for β Thalassemia: Patient DNA was used to perform PCRs and DNA sequencing
tests to look for the presence or absence of mutations in the beta-globin (HBB) gene. Mutations in both
copies of this gene (homozygous) lead to development of the disease*.
Result: Presence of homozygous mutation c.79 G>A (Gly27Lys) in exon 1 of the HBB gene.
Interpretation: Sequencing results reveal that the patient has homozygous mutation c.79 G>A
(Gly27Lys) (HGMD Ref: CM820002) in exon 1 of the HBB gene. This is consistent with HbE or
What are the outcomes of these two tests? Please if anyone knows, response me