Thalassemia Patients and Friends

Discussion Forums => Thalassemia Minor => Topic started by: Caligurl77 on January 10, 2019, 05:13:49 AM

Title: How to approach GP for alpha thalassemia testing?
Post by: Caligurl77 on January 10, 2019, 05:13:49 AM: I've been dealing with anemia since I was about 2 (I'm now in my 20s). My mother, brother and maternal grandmother have all "battled" with anemia as well. I had iron pills prescribed various times among the years but it never improved. My GP tested my iron levels which came back normal. So she then ordered a hemoglobin electrophoresis which also came back normal, but with a note saying that there needs to be further testing to rule out alpha thalassemia or iron deficiency

Im leaning towards alpha thalassemia since my iron levels are normal. My question is, what test should the GP be conducting to confirm/rule out alpha thalassemia?
Title: Re: How to approach GP for alpha thalassemia testing?
Post by: Andy Battaglia on January 21, 2019, 10:39:42 PM: It would not be beta thal, since the HbA2 is low. Beta minors have a high HbA2. It does not look at all like you have iron deficiency. In addition to the normal iron numbers, your RDW is normal and it is high in iron deficiency. Your MCV is normal, but your Hb is low. I think if it's thalassemia, it's alpha thal carrier status. In adults, it usually will take a DNA analysis to determine if alpha thal is present.
Title: Re: How to approach GP for alpha thalassemia testing?
Post by: Caligurl77 on January 24, 2019, 06:22:02 AM: Interesting! Thank you for your reply! My GP gave me a referral to a hematologist and we're awaiting the results from the DNA analysis now.

I need to go lurk in the traits thread. From what I kept reading people who ~~have the trait~~ carry the gene dont have any symptoms.

I keep getting the trait mixed up with the silent carrier.
Title: Re: How to approach GP for alpha thalassemia testing?
Post by: Andy Battaglia on January 31, 2019, 07:33:01 PM: Yes, a single gene carrier of alpha thal is a silent carrier. A two gene affected alpha is a minor or trait carrier.
Title: Re: How to approach GP for alpha thalassemia testing?
Post by: Caligurl77 on February 01, 2019, 01:43:08 AM: I think I got it now.

The DNA analysis came back saying I was at least a carrier but that if I'm symptomatic, I may need additional testing.

I'm just glad this 20+ year journey is coming to a close.
Title: Re: How to approach GP for alpha thalassemia testing?
Post by: Andy Battaglia on February 16, 2019, 08:44:48 PM: They always say carriers are not symptomatic. As you can see from this site, many carriers disagree.