A Newbie from the Philippines

Hi,

I am a mother of a six-year old active boy whom just last Saturday, we were advised that our boy may be suffering from Thalassemia.  This is just the 2nd time I heard of this blood disease, and while his doctor discussed the possible treatments our son will undergo as soon as all the tests done confirmed his initial assesment, it made me feel helpless.

Though there is no confirmation yet, I really want to know what lies ahead of my son.  And I found this forum, and somehow ease my worries knowing that a lot has survived and is living a normal life.

The results will be released by Tuesday next week, but as early as now, please if you know doctors here in Manila who has treated Thalassemia patients, kindly let me know.

Thank you.

Let us know the test results. I can further advise when I know the classification of thalassemia. Thal majors would have already required transfusions, so that can be ruled out, leaving intermedia and minor as possibilities. Until I can see some test results, I cannot advise any further. I do know patients in the Philippines, so I can direct you if necessary.

Hi zyerg,

Nothing to worry about. The biggest worry you could have is about Thalassemia Major (which I and many others from here posses) in which blood transfusions are required every 15-21 days. But thalassemia major is mostly detected within FIRST 2 years of life, and whereas your son is now 6 years old, I can definitely say that he does not have THAL MAJOR.

He could be having thalassemia minor. Thalassemia major child is born if both parents posses thalassemia minor. If your son has minor, you should worry nothing about but just maintaining him well and giving good diet and supplements. No blood transfusions are required at all. As your son might be having thalassemia minor, either or both of you parents must be also having thalassemia minor <- so did you ever felt anything bad or sickness or something to worry about? No, you must be living a healthy life just like some other person. Just that you now know that something like thalassemia minor exists, don't stress your mind with odd thoughts. All would happen good.

Thanks to both of you, Andy and Pratik.  Have read a lot of articles regarding this disease and it seems that the more I read, the more I am scared.  Maybe because I haven't got the test results and right now I am looking for the worst possible that could happen.

Pratik, have you experienced nose bleeding before?  Because it was one factor that his pedia has raised during the consultation.  Aside from being thin, which as he said that the bone structure of my son seems to be like for a 3-year old.  That his bones look brittle.  These factors were the reason why the doctor has arrived on testing his blood sample to rule out thalassemia or other blood disease such as leukemia, and we're praying that he's mistaken.

On Tuesday, we'll be able to get the results and will direct to the hematologist that his pediatrician has referred to us on Friday.  But will furnish you a copy so you can advise me beforehand.

Hoping that everything will turn out fine.  He's our only child and right now, I don't know where to get the strength if test results will give us the bad news.

 

The description of his bones makes me think that the diagnosis will be thalassemia intermedia. He may need to transfuse, but please be aware that he can carry on a normal life as a thal. Treatment has advanced so much that thalassemia is now considered to be a chronic treatable condition. We can help to guide you and I can also put you in contact with thal organizations in your country. We are here to help you find the strength to deal with this. Please understand that every parent has come to us with the same worries and that once they llearn more about thal and its treatments, the worries lessen and things become matter of fact routines.

Hi,

Don't worry, all will happen good. Well, when I was young and a couple of years ago, my nose used to bleed sometimes. But that doesn't mean that he will or has Thalassemia Major. It can depend on multiple factors, also the heat in your country or area; as a side note India is also very hot climate country and so I resulted in nose bleeding couple of years ago but now I don't have it.

About him being thin, haha, my brother (4 years older than me) was only around 1 or 1.5 kgs during born, doctors were saying he might die as well, because the normal weight should be around 3 kgs or so, he was also weak. But as he grew, he is now solid as a rock. Having a stature of 5.9 foot in height, good muscle mass and perfectly normal.

Don't worry, all shall happen great. I don't advise you not to read more about this, definitely read or research more about it till test results come, but don't engage your mind more deeper into this and feel bad. The more you think, the more you'll be stressed. Same is with me sometimes, I develop a phobia when I go on reading more and more and end up concluding that I may have this disease, as well. 

May god bless you and your son and give your family enough strength. Keep us updated on lab result.

-Pratik.

Hi, Andy.

When you say Thal Intermedia, what does it mean?  What are its differenceson having thal minor and major?  Will he be dependent on blood transfusions and eventually to iron chelation?  I've read that bone deformities in the face is also a symptom, what kind of bone deformities?  Because my son since birth has a small bone in the middle of his forehead which is prominent.  Is this considered a bone deformity?

I am getting scarier now, how I wished I can pull the days so I can already have the results and know what exactly is the condition of my child.

Thal intermedia is a less severe form than major, but can often require transfusions, also. It can also lead to bone deformities. Until the blood work comes back, it is difficult to speculate on what the child's classification will be, but majors normally would have started transfusions much earlier than now. Balikatang thalassemia and Batha Thalassemia both have Facebook pages where you can learn more about treatment in the Philippines.
https://www.facebook.com/groups/356276784442158/
https://www.facebook.com/batha.thalassemia

Thanks Andy for your patience on me.  Though scared, this forum and you have been very helpful in giving me insights and information.  Will send the lab results as early as Tuesday or Wednesday, and please let me know of what can be the diagnosis.  We are scheduled to see a hematologist on Friday to interpret the results.

I hope to see results for a CBC and a hemoglobin electrophoresis test.

The most important thing I can do for parents of newly diagnosed thals is to help them get past the initial reaction and fear, so they can get on with the important work of making sure the child's care is well managed. Strength and determination from the parents is essential and helping parents find that will help both parents and child. Fear is replaced by knowledge.

Hi, Andy.  Got the results today though we're missing one more tests because they informed me that the blood extracted was not enough to perform the test.  So, we have to wait for another day to see the results.  Anyways, here's what I have today.

Prothrombin Time/PT:
Control: 11.3 seconds
Test: 14.0 seconds ( NV: 10.5-13.4 seconds)
% ACT: 61.5% ( NV: 78-138%)
INR: 1.24

APTT
Test: 42.1 seconds ( NV: 25.4-38.4 seconds)

WBC: 7.54 10e9/L
NEU: 3.49   46.2%
LYM: 3.07   40.7%
MONO: .701  9.29%
EOS: .171   2.26%
BASO: .117 1.55%

RBC: 4.36 10e12/L
HGB: 131.   g/L
HCT: .376 L/L
MCV: 86.1 f/L
MCH: 30 pg
MCHC: 349. g/L
         
PLT: 475. 10e9/L
                                            SI Result
Alkaline Phosphatase      High   182.00 U/L
ALT                                       14.00 U/L
AST                                       32.00 U/L
Potassium                                 3.63 mmol/L
Sodium                                 137.92 mmol/L

These tests do not look at all like thalassemia in any form, even minor. Hb and Hematocrit, MCH, MCH and RBC are all normal range. There is very little chance that he carries thal. The doctor said his bones "look brittle." Has he ever had a broken bone? You mentioned that he is active. Does he play a little rough like kids will? Does he have any problems keeping up with other kids? I can't say I understand why your doctor would say thalassemia.

Andy you made my day!  I can't thank you enough for keeping my hopes high.

If the hematologist will have the same diagnosis as yours, that is a relief...
Yes, his pedia told us that his bones look brittle that it seems like a bone of a 3-year old.  And yes, he is a very active boy.  I can't remember a time that he was left behind by his other playmates when they run or any activity.  He does not have any incidednt of a broken bone, though he had a lot of bruises - that I attributed to him as a very active boy.

What worries us is his nose bleeding, that also maybe the reason why his doctor wanted to know if he might have thalassemia.  His weight barely increase, he's only 15.5 kg.  And he's really thin.  But aside from that, nothing.

Do you think we need to do more tests to really rule out thalassemia in his case? Or are there any other blood disorder that may be associated or diagnosed based on results and present condition of my son? 

Unless there are also some comments about the physical appearance of the red blood cells, such as monochromatic and microcytotic, there is very little likelihood that thalassemia is involved. Is his appetite normal? Make sure he gets plenty of nutrition from his diet and find ways to increase his calorie intake. Fruit smoothies can often be added to the diet without replacing other foods.

As per his appetite, sometimes he eats a lot, sometimes he doesn't.  But I don't have any problems with feeding him with vegies.  In fact, he more likes it than meat.  He loves yogurt and drinks a lot of milk, too.

What test will give us interpretation of the RBC appearance?  Isn't that included in the results I posted?