Kind of Thalassemia

ello, my name is Budi, I am new to this site and I am from Indonesia. My adopted son is now 2 years, 2 months  old, weighs 12.5 kg  and he was adopted since he was 1 day old. At the age of 1 year old due to fever illness, he got his blood test and found that his hgb was 7.5 at the time of his illness. Suspecting a thal, a month later, he got his screening test, a completed blood test, and the result was his hgb was 8.6 and diagnosed b thal trait/minor as a lab test conclusion. During at the age of 1 year old and 2 years old, we consider him as  b thal minor as the blood test's result so that we didn't give him specific treatment as thal patients, on the other hand we only gave him soman1, Indonesian herbal and sometimes multivit  in addition to his daily intakes. But in this period, we still had feeling that he suffers from more than thal minor.  During this period he looked pale but we didn't actually notice this because of his white/yellow skin (or is it jaundice?) and his lips, palm and sole were so whiter pale as well..2 days after his 2nd birthday, he got fever for 3 days and we brought him to the doctor and got blood test, his hgb was 6.8 and doctor suggested us to get transfusion of 2 bags RPC. After being transfused, he was so very different in daily activity, he was so active, unlike pre tx, and he looked so red in skin, lips, palm and sole..Now, while after 2 months from the date of  tx, he remains just like the first day after tx and his palm and sole are still red color, but we haven't yet taken him to see the doc or gotten blood test. Now he has been daily taking folic acid and vit e as prescribed by the doc, and vit b complex, gamat jelly (cucumber sea extract) and oxygenated drinking water. A friend of mine saw this kind of water could bring his son tx period more longer, from 2 times a month previously to 3 times a year. Sorry for long story, my question is, I wonder, what type of thal does my son suffer from? As lab test said that he is thal minor but obviously in fact he needed transfusion later on. Really appreciate and thank you for your help and explanation.

If you can provide the results of a complete blood count (CBC) and a hemoglobin electrophoresis test, I may be able to tell if the child is minor or intermedia.

Hi Andy, thank you for your prompt response. Here is his blood test data which was done about a year ago. He hasn't yet done complete hematology test currently.

Hgb 8.6   (normal 10.7-13.1)
Leukocit 13.7   (normal 6.0-17.5)
Eritrocit 3.86   (normal 3.6-5.2)
Trombocit 264   (normal 217-497)
LED 11   (normal 0-11)

MCV 66.6   (normal 74-102)
MMCH 22.3   (normal 23-31)
MCHC 33.5   (normal 28-34)

Basofil 0   (normal 0-1)
Eosinofil 6 (normal 2-4)
Neutrofil 0  (normal 3-5)
Neutrofil segment 35 (normal 50-70)
Limfocit 53   (normal 25-40)
Monocit 6  (normal 2-8)

Fe 235   (normal 65-175)
TIBC 273  (normal 250-450)

HPLC   
HBA2 2.2   (normal 2.0-2.8)
HBF >40.0  (normal <=2)
HBH Inclusion   none

Graph provided : F 97.7% A2 2.2%

P1 0.3
F 97.7
Ao 4.3
A2 2.2

Conclusion : From the index and eritrocyt morfology, HPLC (Beta Thalassemia Short Program), HBH Inclusion can be described Beta Thal Minor/Trait. Anemia micrositic hypochrom leucocytocis
Suggestion : Screening other member of family and relates

I really hope to have a conclusion and suggestion for my son with the above description, really appreciate for any responses.

Warm regards,
Budi

Hi Budi,

A fetal hemoglobin level of 40% would be an indication of thalassemia intermedia.

HBF >40.0  (normal <=2)

The drop in Hb to below 7 also confirms intermedia. He is young, so it is difficult to predict the course his thalassemia will take. Please continue the program you have him on with herbs and supplements, as they do appear to be making a noticeable difference. Because his HbF is already high, it is likely that this can be affected in a positive direction and probably already is from the herbs and supplements. As an intermedia gets older, it becomes more likely that transfusion will be necessary, but if a stable Hb can be maintained, and growth is not impaired, while energy levels are adequate, transfusions may be seldom or avoided completely. There is a new drug on the horizon that will significantly boost Hb levels and will provide transfusion independence for most thal intermedias. I expect to see this drug on the market within 5 years. With the hope of boosting Hb 3-4 points, life will be very different for intermedia patients, who now choose between poor quality of life and transfusions. 

Monitor your child and recognize when transfusions are necessary. A check of his Hb will confirm if he needs blood. If you are using a program that helps him, keep him on it and don't let anyone tell you it won't help. There are many HbF inducers in the plant kingdom, and some herbs do seem to have this property. Wheatgrass and resveratrol are most often mentioned, but I am certain other plants can have similar and possibly stronger effects.

Have the parents both been tested for thalassemia trait?

Hi Andy,

Many thanks for your advice, as I see now more clearly that my son is not like thal traits in his behaviour before his blood taking. Beside, his heart beat before blood taking was quite fast and takikardia. while growth is not a problem as his weight and height is within a range of his age, menatl development is good. One thing he cannot afford is his energy level which is not like a healthy child, he seems to be motionless and fussy and sloppy. But ater blood taking he becomes so greatly active.

I will continue to have him on herbs and supplements as these can be maintained his Hgb level more longer. In Additiom, i will also give him wheat grass. Regarding new drug to boost Hgb level, we really hope to be realized and marketed in the shrotcoming period.

His biological parents have not yet been tested for thalassemia trait. My son is the youngest child as they have 3 other children on their own care and nurture. Their 3 children are not likely suffering from thallassemia intermedia as my sight, probably thal trait. But they look like to be less energy/not so active and age 14, 17 and 20 yo. As they have never been tested (complete blood test) due to financial matter, including their parents, i assume the children probably have thal trait and intermedia (can survive without transfusion).

Best Regards,
Budi

Hi Andy,

I have a question, could gene of thal intermedia patients mute/change to become thal major? Do you have information about this and happen to know this case is even real? HOw much percentage is if this happen in thal intermedia?

Thanks a lot.

Best regards,
Budi

Hi Budi
Both thal major and intermedia have two muted genes ( one from the mother and the other from the father). The difference between thal intermedia and major is a clinical difference which is the need for transfusion.

Thal intermedia don't transfuse or transfuse later in life because their genes are not severly muted as in the case of thal major who usually transfuse in the first year of their lives.

So once a thal intermedia patient start regular transfusion, he/she is classified as thal major

Please feel free to ask
Manal

Hi Manal,

Many thanks for your explanation. I guess my son's HB is ranging between 7 and 8.5 and droping to 6.8 when he get sick such as cold, cough and fever.

I read in your posts that your son is taking Hydrea and his HB level is around 8, so how much effective is it to increase HB? Can it add up HB level up to 2 point? I think the use of Hydrea for thalaseemic in Indonesia is very rare, except for curing other iilness such as Leukimia.

I also have other question regarding your son, with an HB of 8, is his energy level sufficient to support his daily activities? Does he get symptoms such as  faster heart beat, faster breathe, fatigue, etc? Because as far as i know, even thal minors can have those kind of symptoms throughout their lives.

Really appreciate for your responses.

Best regards,
Budi

Hi Budi,

You are welcome 
Actually my son hb is around 7 to 7.5 with the hydra. Though the hydra didn't raise his hb too much but I still believe that any intermedia patient should give it a try.

Usually before starting hydra, you should do an electrophoresis to know the percentage of fetal hb and then compare this percentage after the usage of hydra to know if it is effective in increasing the fetal hb or not.

The increase of the fetal hb is a sign that the hydra is working. Hydrea can be effective just after usage or it could take a year or more but it reaches it's maximum effect in the second and third year of usage.

Hydrea also has other benefits such as suppressing the bone marrow and therefore decreases the pressure on the bones and therefore decreasing any bone deformity. Also it is effective in reducing the size of spleen and directs the body's energy to growth. I feel that my son is more active with hydrea and his appetite too is much better. One important thing hydrea does too, is that they decrease the presence of the free alpha chains that represents an oxidative stress on the body. This happenes because hydrea permits the formation of gamma chains that combine with these alpha chains forming the fetal hb that when increased, can increase the total hb up to 2 grams as you have mentioned

As for the activity of my son, I think that his body has adapted living on low hb. But actually I don't know if
this is going to continue or not but let's hope for this. Definetly he has palpitation because of the anemia and
definetly he gets tired when doing bif effort but actually no one will recognize any difference in terms of
 activity when compared to other kids.

Manal

I think the thalassemia patient gets use to the level his/her hb to a certain extend. My son, at 7.8 would be very pale and feeling dizzy. However, if left at 7.8 for a week, he would be all right to do most things. Except that, he is a thal major and if it drops to 7.8, it means it will drop further. He started transfusion at 11 months old and his hb was 5.3. He was adopted and his condition was not known to us until he was taken for a checkup due to other illness. He was saved in the nick of time. A very scary thought, in hind sight.