Thalassemia Patients and Friends
Discussion Forums => The Spotlight => Topic started by: pearlsa on July 21, 2016, 10:29:31 PM
-
Hello Andy
I want to know how to intelligently ask my doctor to test me for hemoglobin variants. I was tested and told in 1997 while living in a different country than I currently live in that I had Beta Thalassemia by a hematologist.
I have struggled with moderate anemia all my life (Hemoglobin L 89 115 - 160 g/L) on average.
In 2010 I was tested again (in Canada) results interpretation came back as (“Compound heterozygosity for two single alpha gene deletions. Most Probable genotype is: -a3.7/-a4.2”.)
Which confused me a little since I was told in 1997 I had Beta Thalassemia.
Recently I took as DNA test 23andme and run my SPNs through Genome-Wide association Studies and got flagged for Beta Thalassemia/Hemoglobin E disease.
BETA THALASSEMIA/HEMOGLOBIN E DISEASE
Gene rsID Minor Allele Genotype Phenotype
1 BCL11A rs766432 C AC +/-
2 HBBP1 rs2071348 G GT +/-
3 SNP? rs9376092 A AC +/-
What tests will include all variants, I would like to know what it is I have.
Thank you so much reading.
Regards,
Pearlsa
-
You would need a DNA analysis done to find the specific mutation. The problem with 23andme is that it can only narrow it down and not give the exact mutation, hence the multiple results.
-
Thank you very much Andy.