Thalassemia Minor alpha & beta trait, how common is this?

Hello Everyone!
This is my first post to this forum.  Im also a new to learning and understanding about thalassemia. I was recently diagnosed with thal minor (ALPHA and BETA)

After recently being sick and going to the ER and physicians office they initially informed me that i was anemic. After further review and consultation i was told based on my CBC blood test that it was more likely thalassemia  minor. I'm a 33 year old male with eastern indian heritage background.

I later scheduled an appointment with a hematologist to learn more and see if it would help with my fatigue, tiredness, abdomen pain etc.. and a host of other problems. The hematologist did some additional blood work to determine the exact DNA makeup of my thal. Today he told me that I had a more "rare" version of thalassemia that he has personally never seen. Thalassemia Minor with Both ALPHA and BETA trait. I never had any symptoms of fatigue, tiredness like this before this is all new for me. 

Do any of you have this same condition, Thal Minor w/alpha and beta trait??  Also i was told that both my parents should have a version of thal, is that always true in this case?

Any help thoughts or questions would be great.

look forward to your responses.
thank you!

Rishi

Hi Rishi,

Can you get the DNA report? I would like to know the specific mutations found, especially the alpha mutation or deletion.
The combination of the two is fairly common, but usually there won't be an anemia, as the two deficiencies basically cancel each other out. However, with certain alpha mutations, problems can arise. You could have inherited the two from either parent. It could be that one parent carries both or you got alpha thal from one and beta from the other. Only testing can answer that.

Hello. I also recently learned that a month ago I was patient with thalassemia minor. I also recently experienced symptoms of anemia once. Unprecedented. I want to ask, how with your hb levels? Is it normal or decrease? Because most patients with thalassemia minor symptoms only if they hb levels down 2 to 3 levels. And I think you better write your full blood check result here.

thanks for the quick response. Ok, i will get the DNA report asap and post.

my most resent HB work was;
 RBC 5.96
 Hemoglobin- 12.9
Hematocrit 41.4
MCv 69.5
MCh 21.7
RDW 15.2
Hemoglobin A 94.2
Interpretation 4.8


i'm interested in seeing what your thoughts are on the alpha gene mutation. I think this could give me helpful insight on what to expect in the future.

thank you!!
rishi

Looking at the CBC results, I would not expect to see anything unusual with the alpha deletion. Your Hb is just slightly low, and could be the result of being sick. When you have both alpha and beta globin deletions, there will be a more normal balance of the two globins, resulting in a fairly normal condition. Your DNA report is also quite useful should you have children.

Judging from all of your data, I guess everything is good. Your MCV and MCH even better than me. Your RBC and RDW too nice. But you're a little down hb levels. May I know, you're a boy or a girl? If women hb like it did not matter. But if the man I think is still lacking a bit longer. By the way, what the symptoms do you feel? Should you explain in detail?

Good Morning,
Here's the follow up regarding the DNA report i received from my hematologist. The report was done by Quest and test type was "ALPHA-GLOBIN COMMON MUTAT"- Here is the exact report

RESULT: HETEROZYGOUS POSITIVE FOR THE- alpha 3.7 Alpha (plus)- Thal

Interpretation:  DNA testing indicates that this patient is positive for the -Alpha 3.7 alpha-globin deletion on one chromosome. This deletion removes one of the alpha- globin genes from the alpha-globi gene cluster. Therefore, this patient is at least a carrier of an alpha (plus)- thalassemia mutation (genotype -alpha/alphaalpha)

Individuals with this genotype are usually clinically normal. If this patient is symptomatic, he or she may have an additional, rare alpha-thalassemia mutation. If the partner of this patient is a carrier of alpha (zero)- Thalassemia, this couple is at risk of having a child affected by Hemoglobin H disease. Family studies may be indicated. Genetic counseling is recommended.



Andy, let me know if this is helpful pertaining to my initial questions as well as the question i emailed you privately. Also what would be considered "Symptomatic" in this situation? And the Hematologist said I had "thal minor with alpha/beta genes"- however this report states "alpha/alphaalpha?? I'm confused a bit.....

thanks for all your help.

Did they also test to see if you are a beta carrier? From your reports, I don't see where the possibility of carrying both would be derived. From this report, you are an alpha silent carrier with only one out of four genes deleted. Normally, there are no symptoms. If you were to have a child with an alpha carrier with a two gene deletion, you could possibly have a child with HbH disease, the three gene deletion form of alpha thal. In most cases, this is not a severe thal and transfusions would not be required.

When meeting with the doctor he said I was both a beta and alpha trait. He also said it was rare and that he had never seen it in his office....but it exist.  Would the lab run a separate test for determining beta and alpha? I will call and ask the doctors office tomorrow to verify this. Also i was looking at the lab work and i had extremely high (lactate dehdrogenase isoenzymes) LD 5 40 range (high)  (range 314)....not sure if this relevant. I will post tomorrow on the beta trait confirmation.

There are separate DNA tests for alpha and beta thal, so do find out if both were done. When you had the electrophoresis test, were levels given for HbA2 and HbF?

The test for lactate dehdrogenase isoenzymes is relevant here in that it may indicate hemolytic anemia. There is some degree of hemolytic anemia in most thal carriers, although it is assumed less for a silent alpha carrier. However, if you also carry beta, the level of hemolytic anemia would be higher, so that may have something to do with the diagnosis. Normally, carrying both somewhat cancels out the affects of the other, but you may experience a higher rate of hemolytic anemia when ill or taking certain meds, including some types of antibiotics and pain relievers. Basically, hemolytic anemia means you have a higher than normal turnover rate of red blood cells, and this is a feature of thalassemia.

ok great, i will find out about the other test. Yes the HBa2 was 5.1 and hbF <1.0  .


his conclusive notes read; A review of his peripheral smear this morning has noted a microcytosis associated with target cells. There was no evidence of a hypochromasia to suspect iron deficiency. There was also no evidence of microspherocytosis to suspect a hemolytic anemia.

He most likely has a thalassemia trait versus other hemoglobinopathies that have resulted in his microcytosis. The possiblity of an iron deficiency anemia or an anemia of chronic disease is less likley.  plan:
- CBC, SMA-7 and LFT
- Iron, TIBC and ferritin
- Hemglobin electrophoresis
- Alpha- Thalassemia gene mutation analysis ( I will also follow up on this test)
- LDH, haptoglobin and reticulocyte count
- Folic Acid 1mg p o daily

That answers the question. The high HbA2 does indicate beta minor is present. Folic acid is a good recommendation.