How to idendify Alpha Plus and Alpha Zero.

Hi I am new here. Me and my wife both have Alpha Thal, but we are not sure which type of Alpha do we have. Recently we are planning to have a baby, so we need to know how can we know what type of Alpha Thal do we have. We consult a Haematologist, and she said the only way to know that is by doing a DNA test, Any other advise?

Here is my test result:

Haemoglobin:       14.1
RBC:                    6.4
Haematocrit/PCV:  44
MCV:                    69
MCH:                    22
MCHC                   32

The red cells show moderate anisocytosis, moderate hypochromasia, moderate microcytosis, a few target cells, a few ovalocytes and a few poikilocytes. The white cells and platelets appeal normal.

Serum iron: 27.7
Normal HBA and HBA2 fractions
No abnormal haemoglobins detected
H Inclusion: Positive in occasional RBCS (Does this means H disease?)
Comments: Finding indicates alpha thalassaemia trait


And this is my wife's result:

Haemoglobin:       10.6
RBC:                    4.8
Haematocrit/PCV:  34
MCV:                    70
MCH:                    22
MCHC                   31

The red cells appeal moderately hypochromic, a few microcytes,  ovalocytes, elliptocytes and target cells seen. Platelets are adequate.

Serum iron: 17.8
Normal HBA and HBA2 fractions
No abnormal haemoglobins detected
H Inclusion: Positive in occasional RBCS (Does this means H disease?)
Comments: Finding indicates alpha thalassaemia trait

As you can see, there is no detail statistic on our HBA & HBA2, should I get the numbers from the lab?

Hello Jam,

 

Your hemotologist is right,Alpha status can be detected by DNA testing.

Please read this post,it will give you a clear detail.

http://www.thalassemiapatientsandfriends.com/index.php?topic=1772.msg14793;highlight=alpha+thalassemia#msg14793

Zaini.

Hi Jam and welcome to the site.

Recently one the members had the same case as yours, you can too check this thread
http://www.thalassemiapatientsandfriends.com/index.php?topic=2642.0;highlight=alpha

Good luck in the DNA

manal

Hi jamjam,

If I were to guess, I would say you are a silent alpha carrier (one gene) and your wife is alpha trait (two genes). However, this is all anyone an do from an electrophoresis. It gives a hint about alpha thal but only by doing DNA analysis will you learn the facts. As much as this may cost, that should be weighed against the cost of lifetime transfusion and chelation that can happen with HbH disease (3 gene alpha). Even if it proves as I said, you and your wife could still have a child with HbH disease, so it is quite important to find out your true status and where the deletions lie.

We will have option for PGS and IVF if we really wanna play safe, but it will cost us about USD$7000 just to get pregnant, not included the delivery. And it is not 100% that we will succeed the first time, or may be even after 2 to 3 times. Well I guest We will have to leave that to god.

Another option is that we can use my wife's sister's egg for IVF, since she do not inherent the gene. But all my 2 other brothers are Alpha Thalassaemia like me.

I would also say, you might want to rule out Iron deficiency prior to reading these results. The results (if Iron is low) can be misleading. There should be a battery of tests to be run and DNA seems to be the best way to go. Also, while doing the DNA tests it might be a good idea to include the testing for running the test for Beta Thal Trait also.

There is a very good information on alpha thal at http://www.thalassemia.com/alpha_thal.html

Alpha thalassemia trait is characterized by two functional genes that code for the production of alpha globins [(-a/-a) or (--/aa)]. The two genes can either occur on the same chromosome (cis-type) or on each of the pair (trans-type). Cis-type a-thalassemia trait tends to be found in individuals of Asian descent

Best would be to get a clear picture of which alpha globin pair is affected in both partners

Just for your info, me and my wife are Malaysian chinese. We knew we have thalassaemia 2 years before marriage, but that time we were already 7 years together, so seperation is not an option. Now after 3 years of marriage we decide its time to have a baby.

To get some understanding of how alpha thal genes combine, please see the diagrams in the reference pictures of our gallery. It explains the possible combinations that can occur based on where the genes are located, as mentioned in Narendra's post.

Thanks for the guide Andy. Ya I am aware of the possible combination, I guest the first thing we need to do is a DNA test to see which type of thalassaemia we have, then we will deal with it.