Deformations 1.1

Hi Everybody! Esspecially Doc. Andy!
(i wonder why we have yet to start calling him doctor Andy? we did infact decided to hand him an honourary dactorate a few months back) Do us all a favour Andy, Pls put doc. in front of your name) 

o.k! back to business! I know this topic has been raised before, but seriously i'm also worried about this happening to my son. Will it be too obvious about the deformation? I mean, at a glance would anyone can notice it? From what age do it normally start to be obvious? My son is now 18months old, he had only 1 blood transfusion, and that was 6 months back. His recent hb is 7.4 and so far he had only twice of hb more that 8. That is 8.1 and 8.3.!

I'm really worried as i want him to be normal, looks normal, be normal eventhough he is always SPECIAL to me!

Thanks Guys! Really hope to hear from u all

Hi,

It's a little bit complicated to answer your question.

Your baby is Thal. Intermedia and this means that his  Bone Marrow producing some Hb and is his body is used to having low Hb. levels. If his health remains normal and does not require increased oxygen levels, then his body will not produce stress on Bone Marrow to over work and expand causing deformations.

However, if you see that he is falling sick very often and his Hb. drops too low; then his body will stress on the Bone marrow to produce the lacking hb.

So, you have to monitor his Hb. whenever he is sick and make sure his hb does not keep falling.

I hope everything stays smooth and his Hb recovers fast whenever he gets sick.

Thanks SAJID!

As i said before, my son's HB is within the range of 7 - 8! He sure is active and lively! Though, it took him some time to recover from flue and coughing! Sure hope that his body can cope with the low HB and not stressing his Bone MArrow!

He had been coughing for almost a month now, but thank god its getting better!

I'll pray to ALLAH that he lives a normal life! And like what you said, hope that everything stays smooth and his HB recovers fast whenever he gets sick.

By the way, does anybody here knows which time is the best time to give him his Folic Asid? Should it be in the morning, afternoon or in the evening before he goes to sleee?

اَسّلامُ علیکم

Hi AL,

Your son is so cute.

Whether or not you will see any bone deformations depends on the severity of his thal intermedia. He should be tested on a regular basis and bone changes are something that should be watched for. With intermedia, it is the clinical picture that will determine the long term treatment, so regular monitoring is necessary. There is an excellent overview of thalassemia intermedia and its treatment at

http://www.emedicine.com/ped/topic2232.htm

A skeletal survey should be conducted to evaluate the status of the bones and to monitor bone changes that are due to the chronic hyperactivity of the marrow...

The physical examination findings vary according to severity and stage of the disease.

    * Pallor is almost always present to some degree.
    * Abnormal facies with prominent facial bones and dental malocclusions are observed in patients with severe disease who are untreated. Growth retardation, failure to thrive, fractures, and bone deformities are also commonly found in this group of patients.
    * An enlarged spleen is a common finding.
    * Younger patients who are seen early may show only minimal findings upon examination, such as pallor or splenomegaly.

This article explains so much about intermedia and why it is so difficult to predict the course of intermedia.

The diagnosis is a clinical one that is based on the patient maintaining a satisfactory hemoglobin (Hb) level of at least 6-7 g/dL at the time of diagnosis without the need for regular blood transfusions...[This initial definition of thalassemia intermedia, which was based on clinical observation alone, retained its validity even after some of the specific mutations associated with thalassemia intermedia were recognized because severity of the clinical course remains unpredictable even in known genotypes. For this reason, some patients with a β thalassemia intermedia genotype are treated as if they have thalassemia major because they present with severe manifestations; similarly, others with a thalassemia intermedia genotype are considered to have thalassemia minor because of the mild or even asymptomatic nature of their condition. This variability is most likely related to the presence or absence of modifying genes. It has been surprisingly seen among siblings with the same genotype.

Because of the significant overlap in clinical severity among the 3 types of β thalassemia and despite the fact that several genotypes are associated with the β thalassemia intermedia picture, the diagnosis continues to be a clinical one, regardless of the genotype involved. Moreover, in an individual patient, the diagnosis may change from thalassemia intermedia to thalassemia major once the patient begins to have more severe symptoms and to require regular blood transfusions./size]

One thing I would like to note is the mention of intermedias occasionally having transfusions, either during illness or to make temporary adjustments to counter short term drops in Hb. Occasional transfusions will not cause dependency and should be utilized when needed.

Thanks Doc. Andy! 

The website you gave sure helps a lot! I definitely must go online more often from now on, just to get information like these. Furthermore, i could easily get hold of you guys (everyone in here like yourself DR. ANDY, SAJID, MAHA etc in here!

By the way, i'm even better good looking compared to my son!  Just Kidding!
Like Father, Like Son!

Doc. Andy! should i give him folic asid in the morning or before he goes to sleep?

The time of day isn't important but it should be the same time every day. I think taking vitamins after breakfast is an easy habit to get into. Folic acid is very safe and there is no known toxic level.

Thanks Dr. Andy 

Come to think of it, you're right! By taking vitamin in the morning it is an easy habit to get into.

On Folic Asid, i think i'll stick to giving him at night right before he goes to bed!

TERIMA KASIH (thats Thank You in Malay)