hi...

salam and hi everyone.

i'm new to this group. my name is Reen from Kuala Lumpur. i'm 39 and a mother of 4 kids. well... i was 1st diagnose that i'm having Thalassemia Hb H Disease during my 1st pregnancy 12 years ago. At that time, my doctor doesn't explain much about it. so, i never bother to know about Thalassemia.

Last month,  i just went to a clinik to do some checkup. After doing full blood test, the results didn't show any good news to me regarding hemoglobin. so i went for hemoglobin electrophoresis since the full blood test results had suggested me to do some hemoglobin screening.

the results for my blood examination are:

- Haematology -
HGB      8.9[g/dL]
RBC       4.6[x10^12/L]
PCV      31%   
MCV      68[fL]
MCH      20[pg]
MCHC      29[g/dL]
PLT      219[x10^9/L]
RDW      21.9 %
Reticulocyte count   3.5%
the results interpretation: Thalassemia Intermedia

- Hb Electrophoresis -
Hb A      Normal
HbA2      1.4%
Hb F      0.5%
Hb H inclusion   Seen(Numerous)
Hb Electrophoresis interpretation: Hb H Disease.

-Biochemistry-
Iron      20.9 umol/L
TIBC      35 umol/L
UIBC      15 umol/L
Percent iron saturation  59%

Based on the above results:-
1. can someone explain to me what is it all about? i really have no idea about Thalassemia.

after all, i'm enjoying mylife with my family since life must go on eventhough the Thalassemia gene is inside my body.

Hi Reen and welcome,

Yes, you have HbH disease, which is an alpha thalassemia. There are 4 alpha globin genes and 2 beta globin genes. The output of these two genes produces hemoglobin. 3 of your alpha genes are affected, so you don't produce as much alpha globin as beta globin. The result is that your hemoglobin level is in the range of 9. This causes anemia but the Hb isn't low enough to cause serious problems. You will tire more easily than a non-thal, but your condition is not serious enough to require blood transfusion. Daily folic acid supplements are the main treatment for HbH, as folate helps build red blood cells.

What I feel is most important is that your children also be tested to see who carries the alpha thal genes. This is important as they get older and choose a life partner and wish to have children. They need to know their own status so they can make informed decisions to choose a partner who is not a carrier, since when both carry two alpha thal genes, an alpha major is the risk of pregnancy and alpha majors do not survive birth. Awareness is essential.

Thank you for your answer, Andy. My doctor also had advised me to take all my kids for blood screening eventhough my husband is free from  having Thalassemia gene.

Anyhow, i'll do the screening for them as soon as possible. Now i'm taking folic acid suppliments, B-complex and Caltrate 600D. All these suppliments were given by my doctor. i always do feel easily tired before but after taking those suppliments, i feel much better.

again, thank you.

salam and hi everyone...

Just to share my happiness that my hb level has increased from 8.9 to 9.6. My hematologist adviced me to do the DNA test to determine the type of functional and disfunctional alpha globin in me.  what else does the DNA test can do?

The DNA test can tell the specific mutation, which can help to determine if any treatment is needed and also is good to know in reference to what can be passed on to children.

oh.. if that's the case, i'll do the DNA test during my next appointment with hematologist somewhere in November 2011. and ya... my doctor also mentioned something about blood mutation.

1. What is blood mutation?
2. Is it (blood mutation) different between one thal to another?
3. What condition can cause HbH Disease to be transferred to children? is it from both mother and father are the carrier?

just to share this story, 35yrs ago, my little sister died after 1 day she lived in this world. it's because she got a very bad jaundist. her body was yellow in color. blood transfusion didn't work on her. and finally she died.is this called Fetal Hydrop?

Hi Reen,

Hemoglobin, the protein that carries oxygen throughout your body is made from equal amounts of alpha globin and beta globin. These globins are produced through the alpha and beta globin genes. There are two beta and 4 alpha genes. When one of these genes has a defect (mutation) or deletion, the quantity and quality of that globin produced is affected. This is called thalassemia and it can range from minor to intermedia to major, the most severe of the conditions. Fetalis hydrops occurs when all 4 alpha genes are affected and no alpha globin is produced. Most of these cases result in the death of the fetus before birth, but sometimes, as with your sister, the baby is born and then dies because no normal hemoglobin can be produced. HbH is when 3 genes are affected. This condition causes anemia, and in some cases transfusions are required.

Thalassemia is a genetic condition passed from parents to children. In HbH and fetalis hydrops, both parents passed the alpha mutations on to the children.

Thanks for your reply, Andy.  Really appreciated because i didn't have much info about thalassemia. This forum really gave me more inputs about it.

Have a nice day....