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Wednesday, October 12, 2005

Beta thalassemia

Dr Amy,

My sister was diagnosed with beta thalassemia a year ago. I never really knew what it was but now that I have been looking it up I am very scared for her. I am very worried because she does not have any health insurance and doesnt go to the doctor. She's a very hardworking mother of six kids and never thinks about her self. She does have problems with anemia, which i hear comes with this disorder. I dont know what to do...I help her out when I can. I know that it could be life threatening especially if she's not being monitored by a doctor. Do you know if there's any programs that she can find that can help her? She lives in North Carolina. She has been told that she does not qualify for medicaid, and with the scarce jobs, the one she has now does not offer any benefits.

What warning signs should she look out for in having this disorder? I am very worried because i read that some people can die by the time they're 30 if not treated and she's 26.

Also, since it is a genetic disorder, do you think it would be wise for me to get screened as well?
Thank you for your time

Nia

Dear Nia,

Beta thalasemia is caused by an abnormal gene, and it occurs in two forms. If you have one copy of the gene, you will have thalassemia minor (also known as thalassemia trait). If you have two copies of the gene, you will have thalassemia major.

Thalassemia major is a very serious illness that is usually diagnosed in the first few months of life. Thalassemia minor causes few, if any symptoms, and is typically diagnosed in adulthood. It sounds like your sister has thalasemia minor. She does not need to have any specialized care.

You can get tested to see if you also have thalassemia minor. If you were to have a child with a man who also had thalassemia minor, that child could have thalassemia major. It would be important to monitor for that during any pregnancy.

Sincerely,
Amy

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