How to diagnose a thalassemia through electrophoresis test?

Question

Hi doctor,

Could you please go through my reports and tell me if I have thalassemia minor? I have attached my electrophoresis test reports. Some of the values in the report are HbF - 0.8%, adult Hb - 66.0%, HbA2 - 30.8%, and other non-specific - 2.4%.

Kindly help.

Answer 1

Hi,

Welcome to icliniq.com.

According to the report attached (attachment removed to protect patient identity), the Mentzer index is not below 13. Usually, in thalassemia, it is below 13.
Hb A2 (hemoglobin A2) level is raised, which is seen in beta-thalassemia minor as well as in hemoglobin E hemoglobinopathy.
HPLC (high-performance liquid chromatography) is confirmatory for diagnosing various hemoglobinopathies.

So, thalassemia is not present. But blood transfusion history should be ruled out. Also, a correlation between clinical findings and preliminary symptoms should be done.

Answer 2

Hi,

Welcome back to icliniq.com.

I will try to explain your report.

In the HPLC test, different hemoglobins are eluted at different times, and accordingly, the report is given. Hemoglobin A2 and E are eluted at the same point.
Hence, your diagnosis is given after considering HPLC, MCV (mean corpuscular value), and RBC (red blood cell) mass, from which the Mentzer index can be calculated which is not here below 13.
So your diagnosis is hemoglobin E hemoglobinopathy. But as you are heterozygous, your partner's HPLC should also be done, and pre-conceptional counseling is advised.

I hope this helps.