Need answers??

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Need answers??
« on: March 01, 2008, 04:42:13 AM »
I have been having a few problems since i was a kid and i wanted to find out if they may be related to thalassemia. I don't eat junk food, i take vitamins and walk every day. My hair is very thin and combs out easily. I don't eat much as my app is bad, so i don't gain wieght. I also get really tired and at times sleep for hours on end, sometime days, if i can have my way about it. I also noticed tha no matter how much i sleep i still feel tired. As a kid i would fall asleep during class and sleep after again after i got home. I get the flu and other infections fairly easy and they usually are bad. Even tho i am negro my skin is very pale (almost yellow)to the point were my viens can be seen. I also have shortness of breath and can't do any exercise that causes my heart to speed up. I have headaches fairly often, the kind that make you want to scope your eyes out in hopes you'll relieve the pain. My hands turn white and clammy when i get cold and my fingers shrivel like i had them in water for an hour. Sometimes the plams of my hands turn blue and i can't feel them for a few mins. I've been told that my iron levels are low and i'm anemic but the iron tabs i've been given don't help. I have an 8 year old that has been diag with alpha thalassemia from birth and am now i'm pregnant with my second.  i need to find out if i have thalassemia as my daughter has some the same problems as i do.
Can someone give me some ans' as the docs here in the bahamas are not fam with thal?

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Offline jade

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Re: Need answers??
« Reply #1 on: March 01, 2008, 07:51:31 AM »
Hi thal-pea

If your daughter has thal; then it means that either the mother or the father is a carrier.  You should carry out tests to find out whether you and your partner are carrier or not.

take care
Jade

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Offline ThalGal

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Re: Need answers??
« Reply #2 on: March 01, 2008, 02:21:10 PM »
both parents must be trait carriers.

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Offline Andy Battaglia

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Re: Need answers??
« Reply #3 on: March 01, 2008, 05:25:37 PM »
Most of the symptoms you mention are possibly related to thalassemia, but it is very hard to say for sure without seeing some blood test results for both you and your daughter. Alpha thalassemia carrier status is not easy to diagnose. If your child has serious health issues resulting from alpha thalassemia, it is most likely 3 gene affected alpha thal, which is called Hemoglobin H disease. You can read more about it at the previous link I supplied in answer to your other post and also at http://www.thalassemia.com/alpha_thal_3.html

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Hemoglobin H disease is characterized by one functional gene that codes for the production of alpha globins (--/-a). Hgb H disease should be considered in the case of a neonate in whom all of the red blood cells are very hypochromic. These neonates have a high percentage of hemoglobin Bart's on the their newborn screening results. In older children, this hemoglobinopathy is characterized by moderate anemia with a hemoglobin in the 8 to 10 gm/dL range, hypochromia, microcytosis, red cell fragmentation, and a fast migrating hemoglobin (Hgb H) on electrophoresis.

Hemoglobin H does not function as a normal hemoglobin and has a high oxygen affinity (holds onto oxygen longer making it unavaible for use by the body), so the measured hemoglobin in these children is misleading. Individuals who have Hgb H generally have a persistent stable state of anemia, which may be accentuated by increased hemolysis during viral infections and by exposure to oxidant medications, chemicals and foods such as sulfa drugs, benzene, and fava beans (similar to individuals who have G6PD deficiency). As the red cells mature they loose their ability to withstand oxidant stress and Hgb H precipitates, leading to hemolysis. Therapy for individuals who have Hgb H disease includes folate, avoidance of oxidant drugs and foods, genetic counseling education and frequent medical care. Uncommon occurrences in a child with Hgb H would be severe anemia, cholelithiasis, skin ulceration, and splenomegaly requiring splenectomy. Unlike individuals who have beta thalassemia, hemosiderosis is rare in Hgb H disease.

The main treatment for HbH disease is folic acid and regular medical monitoring. The dosage of folic acid should be 1000-10,000 mcg (micrograms). 1000 mcg = 1 mg.

If your child has HbH disease, then both parents have to be alpha thal carriers, as it is a 3 gene condition, which means 3 of the 4 alpha hemoglobin genes are deleted. Two alpha genes are received from each parent, so both parents have to be carriers for the child to have 3 alpha thal genes.

Please pay special attention to the need for genetic counseling. Also, diet and nutrition can play key roles in maintaining health. See our thread at http://www.thalassemiapatientsandfriends.com/index.php?topic=118.msg578#msg578
Andy

All we are saying is give thals a chance.

Re: Need answers??
« Reply #4 on: March 03, 2008, 11:04:41 PM »
Hi Andy,

What should I look for in these test that may indicate thal? I want to be sure to alert my doc if something is wrong because thal is not tested for here in the bahamas. At lease i would be able to help them help me and my unborn child.

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Offline Narendra

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Re: Need answers??
« Reply #5 on: March 03, 2008, 11:12:37 PM »
From:- http://www.thalassemia.com/gene_test.html

I think this link will give you specifics of alpha thal trait - http://www.thalassemia.com/alpha_lttr.pdf
the seconds page of this pdf file mentions which tests can help. If the doctor's are NOT aware of thal, it would be a good idea to get a printout of this and take it along with you when visiting the doctor

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Offline Andy Battaglia

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Re: Need answers??
« Reply #6 on: March 04, 2008, 01:29:21 AM »
If your doctor cannot properly test for alpha thalassemia, blood it may be possible to have it sent to the US for analysis. If you have trouble getting a proper diagnosis, I would suggest contacting the Cooley's Anemia Foundation for more information on how to do this. On their site they talk of the only definitive test for alpha thal carrier state. Usually, alpha thalassemia is diagnosed by a combination of factors which are described in the link Narendra provided, but there is only one test that can absolutely confirm it.

http://www.thalassemia.org/sections.php?sec=1&tab=8

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The trait for alpha thalassemia (or Silent Carrier) is much more difficult to identify and can only be determined by a special DNA test called alpha globin DNA mutation analysis. This test is available at only a few major medical centers in the US. If you suspect that you may have the alpha thalassemia trait and cannot visit one of those centers, your doctor can send your blood sample to one of the special laboratories for DNA testing.

Cooley's Anemia Foundation
330 Seventh Avenue, #900
New York, NY 10001
(800)522-7222
Fax: 212-279-5999

Patient Services Manager
Eileen Scott
eileen.s@cooleysanemia.org

You might also consider contacting one of the Comprehensive Care Centers in the US. Please see their site for a list
http://www.thalassemia.org/sections.php?sec=59#TCRN
 
Andy

All we are saying is give thals a chance.

 

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