Please help me

My name is stefanie, I am an american Citzen but for reasons I am now living in mexico with my husband and 3 1/2 year old daughter. I am having a hard time finding a doctor who knows what thalassemia is. My mother is greek(from both of her parants) my daughter has been anemic her whole life. It wasnt till recently I heard about Thalassemia and I really belive this is what my daughter has. My doctor said if i can get the name of the tests that need to be ran-then he will run them, but for now he doesnt know which tests to run. 

My mother said she was told that her blood cells are smaller then normal and that that are pale/pinkish. 

My daughter gets sick very easily, is often pale and very sleepy. Her hemoglogin dropped to 6 when she was 7 months old(she had a tummy infection) Her last hemoglobin test was 11.6, i know that isnt bad, but it doesnt budge from that spot, wont go a drop higher, and if she gets ill it starts to go down, it is like a contstant fight to keep it there. i dont think iron makes any differance at all. iron made her sick, so i stopped giving it to her and just try to have normal amount of iron in her diet. 

What I would like to know is the name of the tests that my daughter needs to get done to be sure this is what she has. I have read over so many websites yet I am very confused still. any information you could give me would be very helpfull.

thank you very much,
Stefanie Hernandez 

Welcome Stefanie to the website,

You are at the right place. Members on this forum are pretty helpful with information on thalassemia.

My mother said she was told that her blood cells are smaller then normal

That is the MCV value which is done when a CBC (Complete Blood Count) test is done. This test is normal and everyone who get a blood tests gets this test done.

What I would like to know is the name of the tests that my daughter needs to get done to be sure this is what she has.

One test which is very common is the Hemoglobin Electrophoresis. This test checks for Adult Hemoglobin and the RBC value and gives an idea of Thalassemia. Although, this test does NOT work 100% of the time. DNA test is the best way to determine what exactly is the type of Thalassemia

You daughter is definately NOT a Thal(Major) - which is the most severe form of Thalassemia. This is because all Thal(Major)s are detected from early age (3 months to 15 months). She might be Thalassemia(Minor) which is NOT as bad.

Also, you as well as your husband might want to find out your Thalassemia status. Thalassemia(Minor) are mostly Asymtomatic and do NOT get detected until specifically tested or have a Thal(Major) child. You can also ask your doctor to send you the CBC test done while you were pregnant and find out if your MCV values are low and also try to any blood reports for your husband.

Ask questions and we might be able to help

-Narendra

HI Stefanie and welcome to our group,

The different types of tests for thalassemia are listed at
http://www.labtestsonline.org/understanding/conditions/thalassemia-3.html

   
Laboratory Tests

CBC (complete blood count). The CBC is a snapshot of the cells and fluid in your bloodstream. Among other things, the CBC will tell the doctor how many red blood cells are present, how much hemoglobin is in them, and give the doctor an evaluation of the size and shape of the red blood cells present. MCV (mean corpuscular volume) is a measurement of the size of the red blood cells. A low MCV is often the first indication of thalassemia. If the MCV is low and iron-deficiency has been ruled out, the person may be a thalassemia trait carrier.

Blood smear (also called peripheral smear and manual differential). In this test a trained laboratorian looks at a thin stained layer of blood, on a slide, under a microscope. The number and type of white blood cells, red blood cells, and platelets can be manually counted and be evaluated to see if they are normal and mature. A variety of disorders affect normal blood cell production. With thalassemia, the red blood cells are often microcytic (small). They may also be:

    * Hypochromic (pale – have less than the normal amount of reddish coloring – indicating less hemoglobin)
    * Vary in size (anisocytosis) and shape (poikilocytosis)
    * Be nucleated (not normal in a mature RBC)
    * Have uneven hemoglobin distribution (producing “target cells” that look like a bull’s-eye under the microscope.

The greater the percentage of abnormal looking red blood cells the greater the likelihood of an underlying disorder, and impaired oxygen carrying capability.

Iron studies. These may include: Iron, Ferritin, UIBC, TIBC, and Percent Saturation of Transferrin. These tests measure different aspects of the body’s iron storage and usage. They are ordered to help determine whether an iron deficiency is causing and/or exacerbating a patient’s anemia. One or more of them may also be ordered to help monitor the degree of iron overload in a patient with thalassemia.

Hemoglobinopathy (Hgb) evaluation. This test measures the type and relative amounts of hemoglobins present in the red blood cells. Hemoglobin A, composed of both alpha and beta globin, is the normal type of hemoglobin found in adults. A greater percentage of Hgb A2 and/or F is usually seen in beta thalassemia trait. Hb H may be seen in alpha thalassemia due to HbH disease.

DNA analysis. This test is used to investigate deletions and mutations in the alpha and beta globin producing genes. Family studies can be done to evaluate carrier status and the types of mutations present in other family members. DNA testing is not routinely done but can be used to help diagnose thalassemia, and to determine carrier status.

Your daughter is a thal minor and you are right about iron. In most cases it will not help a minor. However, there are some nutritional supplements that may be of benfefit, especially folic acid. You can see our thread about supplements at
http://www.thalassemiapatientsandfriends.com/index.php?topic=118.0

Please feel free to ask all the questions you have. We will do our best to answer them.

thanks for the replys.  :hug

hopefully i can figure this all out.

i am actully happy if this is what she has. i know that seem silly, but the other options are allot worse.

thanks
stef

  WE ARE HERE VEREY GLAD TO HELP YOU OR ANY BODY MAYBE THE Dr GIVE YOU DRUGS BUT HERE WE GIVE YOU ALL THE LOVE AND ALL THE ADVICE WE ARE HERE ONE FAMILLY SHARE EACH OTHER ALL THE PROBLEMS ... SO BE FREE TO ASK ANY THING EVEN SILLY QUESTION BUT SOME TIMES THIS SILLY QUESTION IS VERY IMPORTANT FOR SOMEBODY.. 
                               
                                           
                                                    KHALIFA
                                            STATE OF KUWAIT

Welcome to this site, Stef. I know you will find lots of information and support here. Keep asking questions and reading older posts. Good luck with your daughter. Jean

i sent my doctor the links you all provided.  he ordered the tests and she goes in wed. morning. it will be sent to the city since these small towns arent set up for these things. but we should get results in about a week.  not sure how to feel. happy we are getting it done though. 

hopefully it all turns out well, and we will finnaly have an answer to what has been happening to our little girl.

thanks
stef

HI Stephanie...

I think your daughter has Thalassaemia.. one look at her picture will tell you that she has all the facial features of thal... that she has not needed transfusion could be good sign too... maybe she has Thal inter.. or a Thal E.. which can go wiothout transfusion in the early years...

I would advise you to get in touch with Dr. Alan Cohen in Philadelphia, as soon as possible before you start transfusions.. maybe he can suggest something , so that your child will not even ned transfusions.. he is the best in Thal... in the USA.

Love
shikha

thanks, and dont worry my daughter wont be getting transfusions. no matter what the outcome is we will find a way to treat her without blood. we as a moral desission- will accept life saving transfusions, but only transfusion that do no contain blood or any of it's parts.

thanks
stef

Since your daughter is normally able to maintain an Hb of over 11, it is extremely unlikely you would ever have transfusions suggested to you. It is possible that she carries the beta trait and also another gene, such as an alpha thal gene, which can cause a condition more noticeable than minor, but still does not require transfusions. Getting her properly tested is the first step. By the way, even some minors show some of the thal features. It is apparent in the minor who works for me as well as in his son.

Welcome to the group, Stefanie!  We are very happy to have you here with us.   :hug

I also want to say that your daughter is soooooo beautiful!   

thank you so much for all the support. she gets tested tomorrow afternoon, i am getting nervouse!

i just want to know and get it over with! yah know. 

ahh, but thanks so much!  :hug

stef

 

they took bloof from her arm and finger.  she balled her eyes out and so did. 

but we should have the results tomorrow by 1!

stef   

Dear stef.
              GOOD LUCK AND KEEP US INFORME BECAUSE WE CARE FOR YOUR DOUGHTER AS WE CARE FOR OUR CHILDREN..
                                            GOD WITH YOU
                                               KHALIFA
                                        STATE OF KUWAIT

Hi! I am Zai from Philippines. I have been diagnosed with thal 2 months ago. The tests I have undergone were: HEMOGLOBIN ELECTROPHORESIS, SERUM FERRITIN CHECK, CBC, PHERIPHERAL BLOOD SMEAR...

Hope your daughter's doctor would finally discern whatever health problem she has so she could receive prompt treatment. Unlike me, I was diagnosed at the age of 21, when the disease had already created lots of complications...
God Bless