Blood Disorders Community
934 Members
Avatar universal

Is it HB E beta thalassemia minor, major or intermedia?

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
Haemoglobin E.

What are the outcomes of these two tests? Please if anyone knows, response me
0 Responses
Have an Answer?
Didn't find the answer you were looking for?
Ask a question
Popular Resources
Fish oil, folic acid, vitamin C. Find out if these supplements are heart-healthy or overhyped.
In this latest Missouri Medicine article, Richard J Weachter, MD, details the pros and cons of new blood thinner drug Dabigatran (Pradaxa).
Are there grounds to recommend coffee consumption? Recent studies perk interest.
Salt in food can hurt your heart.
Get answers to your top questions about this common — but scary — symptom
How to know when chest pain may be a sign of something else