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How To Diagnose Thalassemia?

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Posted on Tue, 25 Aug 2015
Question: my mother's name is XXXXXXX she is 51.
she has been having health issues for years. that is digestive issues.
in 2001, a doctor in mayo told my mother that she is thalassemia. left us confused. neither of her parents has it.
is there a blood test that shows that she has thalassemia?
what would her blood work would look like now her cbc?
also does digestive disorders have anything to do with thalassemia?
She is also acidic system body, can't even get a saline iv without burning her.
pukes up acid. yes tryed all the ppis and blockers and antiacids.
bruises all over her body, cook skin, barley can eat anything.
82 pounds. drinks lots of water and can not get rehydrated.
please answer soon thank you.
doctor
Answered by Dr. Hardik Sanghvi (56 minutes later)
Brief Answer:
Hb chromatography is confirmatory test for thalassemia.

Detailed Answer:
Hi, dear
I have gone through your question. I can understand your concern.
Your mother may have thalassemia minor.
Hb chromatography is the confirmatory test. If it shows HbA2 level more then 3.5 then its thalassemia minor.

CBC would shows low MCV with high RBC count and slightly low hemoglobin in a patient with thalassemia

Most of the time thalassemia minor person remain asymptomatic. Her digestive problem is not due to thalassemia. She should also go for ultrasound abdomen to rule out other pathology.

Proton pump inhibitors like rabeprazole or pentoprazol can be used to control acidity. Till you find definitive treatment.

Hope I have answered your question, if you have doubt then I will be happy to answer. Thanks for using health care magic. Wish you a very good health.
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now

Above answer was peer-reviewed by : Dr. Prasad
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Answered by
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Dr. Hardik Sanghvi

Hematologist

Practicing since :2008

Answered : 7043 Questions

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How To Diagnose Thalassemia?

Brief Answer: Hb chromatography is confirmatory test for thalassemia. Detailed Answer: Hi, dear I have gone through your question. I can understand your concern. Your mother may have thalassemia minor. Hb chromatography is the confirmatory test. If it shows HbA2 level more then 3.5 then its thalassemia minor. CBC would shows low MCV with high RBC count and slightly low hemoglobin in a patient with thalassemia Most of the time thalassemia minor person remain asymptomatic. Her digestive problem is not due to thalassemia. She should also go for ultrasound abdomen to rule out other pathology. Proton pump inhibitors like rabeprazole or pentoprazol can be used to control acidity. Till you find definitive treatment. Hope I have answered your question, if you have doubt then I will be happy to answer. Thanks for using health care magic. Wish you a very good health.