Can I have Hbh and be asymptomatic?

Hi, to all, I am a new member and pretty shook up to be honest, I am of mediterannean origin, and due to get married soon, both myself and fiancee had the mandatory screening for thal 2 weeks ago, the dr called us in to tell us we may both have the alpha stigma as they call it here, in very general terms me the 'bad' rarer form and my fiancee the 'good'. I have no test results of blood counts etc to hand, but doctor has sent my sample away for dna tests. 

I have no confirmed reports from any family members of having thal a, but I know it can go undetected if you are a slient carrier.

Despite being told not to worry, it is stressing me out, furthermore the Dr. just left us in limbo saying we MAY have it, when I asked him more about my condition he mentioned Hbh, could I have Hbh and show no symptoms?

How conclusive is the initial screening for thal?  Is there any margin of error?

 I feel the dr.  is just lying to me when he says I may have nothing 'wrong' with me? I have to wait till the end of the month for my dna, and to me dna testing suggests they want to look down at chromosome level so they must suspect something.

H Omodos ,
 , i hope you wil find this frorum very usefull, helping, caring, encouragin and supportive ..
i hope you'll find all the answer of your concerns and questions here on this forum, keep posting and stay in-touch with us,  its your forum so dont hesitate to ask abt anything and to share anything, and feel free to share any experience that you wana share with us , keep visitng the site i hope senior members will reply and answer to your questions very soon ..

Best Regards
Umair

Hi omodos,

Actually, your doctor has told you all he can until the DNA analysis is completed. Alpha thal is not easy to detect from blood tests, and although it may be apparent that you are an alpha carrier, the type of mutation or deletion you have can only be revealed by the DNA analysis. I think it's unlikely that you have HbH unless you have some history of anemia. However, because both you and you fiancee may be carriers, there would be a possibility of your children having HbH disease. Do you know what your hemoglobin level is and have you ever been bothered by anemia? If by some chance you do have HbH, it poses no threat to your health if you have had no health issues to this point. The main concern would be to avoid fava beans as they can create a crisis in HbH patients.

Because there are a total of 4 alpha genes, and they can be deleted singly or in pairs, it makes it impossible to guess. The DNA analysis will clear everything up. As I said, it is very unlikely that HbH disease would have no symptoms. However, if you have two alpha genes deleted and your fiance has one deleted, it does create the possibility of HbH in your children, but this also depends on where the deletions are located. Even if both parents have two alpha genes deleted, the possibilities for the children depend on whether the deletions are in the same gene cluster or only one per gene cluster. This is illustrated in our gallery at http://www.thalassemiapatientsandfriends.com/index.php?action=gallery;cat=7  There are two pictures that illustrate the possibilities when both parents have two genes deleted. I know it seems the doctor has been vague but there really is nothing more than anyone can tell you until the DNA results are in.

Please let us know the results of the DNA tests and if you need any further explanation after you know the results, I will be happy to explain the various possibilities. Until then, try to relax.

One note I want to make is that I really wish doctors would stop referring to thalassemia as the stigma.

thanks Andy for the prompt reply, but quick question, how full proof is the initial screening?the mcv test etc?and is the DNA only doen to confirm the deletion.mutation i have?

  I will call the Dr. and ask what tests were done exactly on our blood samples. The technicians at the lab were very unhelpful when I called them, and thnk they just wanted me to get off the phone and replied yes to my every question, I did ask them is there a possiblity that I dont have thal a, i.e that the initial screening was wrong?and they said yes....hmmmm

In my teens I was on a long course of tetracylines a good 6-7 years, and in my late teens I had a course of Isotretinoin and had a blood sample taken then to see if a. I could take the drugs, and b. a blood sample taken after to see if it had affected my liver, so would abnromal rbc size etc not have been picked up by chance then?

Again thanks Andy and to everyone else on the site

Hi omodos ,

The initial screenings for alpha thalassemia can only suggest possibilities. It is not possible to diagnose one, two or three gene deletions with the electrophoresis or CBC, so when suspected, the only option is the DNA test. Alpha thal can truly be a silent trait, so regular blood tests may not reveal anything. I am sure an electrophoresis must be done for the marriage screening, so that is why it would be suspected now. Again, I do feel that HbH would have been apparent in a CBC because your Hb level would be low and there would be some visual evidence in the smaller red blood cells, so I doubt you have a three gene deletion. In your email, you mentioned the different types of alpha thal deletions. Until you have your DNA results, you will not know what type of deletion either of you do have, so speculation is of no value. I know it's stressful, but until you know exactly what each of you carry, there is no way to predict the outcome for your children. Even if the results are discouraging, please realize that with In Vitro Fertilzation, that a healthy child is still possible, without taking any risks.