Help Please

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.