I have a 15 yr old girl that has had this disease since birth they have did all kind of test and still i have no answers as too what type it is . It has been 15 yrs and she still has to go to the doctor for this ! Can you give me any advice what to do ? they have done an alpha and beta test know they are sending her to a genetics doctor I am determined to find out something for my daughter!!
Thank you Dr Rowena,
I did see my doctor again, he did some additional test on my increased numbers on my AGT and ALT. He did find some abnormal results on my liver. He scheduled me to have an ultrasound on my abdomen to check on my gall bladder. I'm also doing a fecal blood test on my bowels I guess he wants to make sure that my ulcers are not bleeding.
Do you think that I should suggest a mutational test performed as well?
Looking forward to your response, Have a nice day:)
Omeomy70
Hi,
How are you? Thalassemia is a blood disorder passed down through families in which the body makes an abnormal form of hemoglobin and results in excessive destruction of red blood cells. There are many forms of thalassemia and each type has many different subtypes. The two main types of thalassemia are alpha thalassemia and beta thalassemia. Both alpha and beta thalassemia include two forms: thalassemia major and thalassemia minor. Thalassemia major occurs when you inherit defective genes from both parents while thalassemia minor occurs if you receive the defective gene from only one parent. Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.It is best that you discuss the type of thalassemia that you have with your doctor for proper management. Additional tests like mutational analysis may need to be done. Also, discuss the results of your blood tests for proper correlation with your type of thalassemia. This link may be helpful: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001613/
Take care and best regards.