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HPLC test for thalassemia, 0% Hb F, 3% Hb A2, 0% HB F and 5.2% Hb A2, complications ?

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Dear Sir, I m 32, male. Going to marry a lady of 28 yrs. We have undertaken HPLC test for thalassemia testing. I m carrying 0% Hb F & 3% Hb A2, while she is carrying 0% Hb F & 5.2% Hb A2. Is it medically OK for our happy married life? If any complications suspected, pls advise further Tests so that we can have specific information.
Posted Fri, 20 Apr 2012 in Blood Disorders
 
 
Answered by Dr. Sapan J. Pandya 56 minutes later
Hi,

Thanks for the query.

HBA2 is hemoglobin, alpha 2 gene. It provides instructions for making a protein called alpha-globin. They help in formation of hemoglobin.

Both the HBA2 values of you and your fiance are within normal limits. So as far as Thalassemia is considered there is no chance for development of either Thalassemia minor or Thalassemia major.

It is good that you are so aware of the dangers of Thalassemia and its prevention by genetic counseling. Yes, the report is medically OK for your happy married life.

Further you may go for chromosomal study, though it is not absolutely necessary.
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Follow-up: HPLC test for thalassemia, 0% Hb F, 3% Hb A2, 0% HB F and 5.2% Hb A2, complications ? 3 hours later
1). Our HPLC Test Reports say "the normal value of Hb A2 should be between 1.75% and 4%, while heterozygous beta- thalassaemia Conditions yield Hb A2 levels between 4% to 9%." As my fiance is carrying 5.2% Hb A2 we are very much tensed, please advise.
2). Do we require to have any test for alpha-thalassemia?
For your information - my fiance had a cousin on her maternal side, who was a thalassemia major.
 
 
Answered by Dr. Sapan J. Pandya 49 minutes later
Hi again,

Thanks for the follow up.

The first test you may get done is Iron studies (iron, transferrin, ferritin). They are useful in excluding iron deficiency and the anemia of chronic disorders as the cause of the patient's anemia.

You may check the level of Free erythrocyte porphyrin (FEP). FEP tests may be useful in situations in which the diagnosis of beta thalassemia minor is unclear. FEP level is normal in patients with the beta thalassemia trait, but it is elevated in patients with iron deficiency or lead poisoning.

You may also rule out Alpha thalassemia. It is characterized by genetic defects in the alpha-globin gene, and this variant has features similar to beta thalassemia. Patients with this disorder have normal Hb A2 levels. Establishing the diagnosis of the alpha thalassemia trait requires measuring either the alpha-beta chain synthesis ratio or performing genetic tests of the alpha-globin cluster (by Southern blot or polymerase chain reaction tests).

Hope I answered your query completely.

Wishing you good health.
Above answer was peer-reviewed by
 
Follow-up: HPLC test for thalassemia, 0% Hb F, 3% Hb A2, 0% HB F and 5.2% Hb A2, complications ? 18 hours later
Dear Sir,
Thanks a lot for this answer. Still we are in serious tension and would like to know the followings -
1.We understand it is not a case of thalassemia-trait, as my fiance has not got elevated levels of both HbF & HbA2 concurrently.
2.Following your last clarification, do you suspect it may be a case of MICROSYTOSIS or, MICROCYTIC ANEMIA.
3. If it so happens, what impacts/symptoms will it bring on our daily lives, and also to our next generation. For your information my fiance is bearing some RASH PROBLEM on her skin.
4. U 've advised to rule out possibility of alpha-thalassemia, the explanation is not clear. Would request you to explain the reasons of ruling out in a simplier way.
Pls understand our crisis, and extend your whole-hearted best clarifications and help us. Please....
 
 
Answered by Dr. Sapan J. Pandya 47 minutes later
Hi,

Thanks for writing back.

1. No, it may be Beta Thalassemia Trait. It is not ruled out as there is mild elevation of HGA2 in your fiancee.

2. It may be Microcytic Anaemia, where just supplementing Iron and B-Complex would give excellent results.

3. For Beta Thalassemia Trait, the only symptom would be mild Anaemia not cured even after supplementing Iron and B-Complex. There is a 25% chance that one of your child would have the Beta Thalassemia Trait. No relation with Rash on her skin.

4. There is also possibility of Alpha Thalassemia, which is one rare variant of Thalassemia, while beta thalassemia is more common. Alpha Thalassemia is characterized by genetic defects in the alpha-globin gene, and this variant has features similar to beta thalassemia. Patients with this disorder have normal Hb A2 levels. Establishing the diagnosis of the alpha thalassemia trait requires measuring either the alpha-beta chain synthesis ratio or performing genetic tests of the alpha-globin cluster (by Southern blot or polymerase chain reaction tests).

I hope now I am clear.
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