QUESTION?

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Offline alnahrahmea

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QUESTION?
« on: March 17, 2007, 04:03:03 AM »
I am actually confused now of my condition... They made a prognosis I'm a Thal Major, but it turns out the I may be only a Thal Intermedia. I just want to know before I go for my check-up on the 29th.

Here are the tests that I have taken so far...

CBC (This test is the only thing they do on a regular basis since they diagnosed me with the Thal trait. Latest: March 10, 2007)
Serrum Ferritin (Latest: December 2006)
Abdominal Ultrasound for Spleen and Liver (This is a test that they do every 3 months. Latest: January 2007)
Bone Marrow Aspiration (Latest: January 15, 2007)

What are the tests that are a MUST for a suspected Thal intermedia to undertake in order to confirm his or her condition?  How many times a patient will have to take the tests?  Is it safe to take the tests if the patient is 32 weeks pregnant?

Lei  :heartpink

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Offline Andy Battaglia

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Re: QUESTION?
« Reply #1 on: March 17, 2007, 07:06:44 AM »
A hemoglobin electrophoresis is the most widely used test to confirm thalassemia. It separates the different types of hemoglobin so that they can be measured. A high percentage of fetal hemoglobin (HbF) indicates thal major.

However, thalassemia intermedia is defined by non-dependence on transfusions, even though normally, an intermedia will have two beta thal genes, just like a major. In intermedia, even though both genes may be affected, there is still enough hemoglobin production for the patient to survive without transfusions. Majors cannot survive unless transfusions are started within the first few years of life. Many intermedias do require transfusions later in life as their hemoglobin levels are not enough to maintain a reasonable quality of life, but because they did not transfuse before adulthood, they are considered to be intermedias. Generally, if your body can maintain a hemoglobin level somewhere in the 6-7 range without regular transfusions, you will be classified as intermedia.

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

Quote
Thalassemia intermedia is a term used to define a group of patients with beta thalassemia in whom the clinical severity of the disease is somewhere between the mild symptoms of beta thalassemia trait and the severe manifestations of beta thalassemia major. The diagnosis is a clinical one 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...Because of the significant overlap in clinical severity among the three types of beta thalassemia and despite the fact that several genotypes are associated with the beta 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...The symptoms of thalassemia intermedia reflect ineffective erythropoiesis, which leads to anemia, medullary expansion, and extramedullary hematopoiesis. Iron overload is a potential complication of thalassemia, even in patients not requiring red blood cell transfusions. It results from excessive absorption of dietary iron, a consequence of ineffective erythropoiesis and rapid turnover of plasma iron.

Iron overload can prove to be a serious problem in intermedia and serum ferritin levels should be checked periodically.

Any of these tests are simple blood tests and pose no danger.
Andy

All we are saying is give thals a chance.

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Offline alnahrahmea

  • Thal Mom from the Philippines
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  • 93
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  • This is my God's gift and warrior in us. :)
    • Princess SHINE's KINGDOM
Re: QUESTION?
« Reply #2 on: March 17, 2007, 07:12:51 AM »
Thanks Andy!

A hemoglobin electrophoresis is the most widely used test to confirm thalassemia. It separates the different types of hemoglobin so that they can be measured. A high percentage of fetal hemoglobin (HbF) indicates thal major.

However, thalassemia intermedia is defined by non-dependence on transfusions, even though normally, an intermedia will have two beta thal genes, just like a major. In intermedia, even though both genes may be affected, there is still enough hemoglobin production for the patient to survive without transfusions. Majors cannot survive unless transfusions are started within the first few years of life. Many intermedias do require transfusions later in life as their hemoglobin levels are not enough to maintain a reasonable quality of life, but because they did not transfuse before adulthood, they are considered to be intermedias. Generally, if your body can maintain a hemoglobin level somewhere in the 6-7 range without regular transfusions, you will be classified as intermedia.

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

Iron overload can prove to be a serious problem in intermedia and serum ferritin levels should be checked periodically.

Any of these tests are simple blood tests and pose no danger.
Lei  :heartpink

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Offline alnahrahmea

  • Thal Mom from the Philippines
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  • 93
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  • This is my God's gift and warrior in us. :)
    • Princess SHINE's KINGDOM
Re: QUESTION?
« Reply #3 on: March 17, 2007, 08:02:31 AM »
I am just curious, why did my doctor made me undergo bone marrow aspiration if what I need is a hemoglobin electrophoresis?

I just don't get the point that I paid P5,000.00 for a procedure that I don't really need to detect my Thalassemia condition.  :rolleyes
Lei  :heartpink

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Offline Andy Battaglia

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Re: QUESTION?
« Reply #4 on: March 17, 2007, 10:58:06 AM »
Bone marrow aspiration is an important diagnostic tool which is used to provide information about the status of and capability for blood cell production.

From
http://www.labtestsonline.org/understanding/analytes/bone_marrow/test.html

Quote
A marrow aspiration and/or biopsy may be ordered to help evaluate blood cell production...and to help determine whether a severe anemia is due to decreased RBC production, increased loss, abnormal RBC production,

A bone marrow aspiration gives the most accurate view of the red blood cell production and what type of cells are being produced. It can be used to eliminate or prove that other conditions are playing a part in what is seen in the blood tests.

You should ask the doctor why he did the aspiration and what it showed.
Andy

All we are saying is give thals a chance.

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Offline alnahrahmea

  • Thal Mom from the Philippines
  • **
  • 93
  • Gender: Female
  • This is my God's gift and warrior in us. :)
    • Princess SHINE's KINGDOM
Re: QUESTION?
« Reply #5 on: March 22, 2007, 12:20:08 PM »
Thanks again Andy!  I'll be seeing my hematologist on the 29th and I'll be checking the result of that with her.

Bone marrow aspiration is an important diagnostic tool which is used to provide information about the status of and capability for blood cell production.

From
http://www.labtestsonline.org/understanding/analytes/bone_marrow/test.html

A bone marrow aspiration gives the most accurate view of the red blood cell production and what type of cells are being produced. It can be used to eliminate or prove that other conditions are playing a part in what is seen in the blood tests.

You should ask the doctor why he did the aspiration and what it showed.
Lei  :heartpink

 

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