Thalassemia Patients and Friends
Miscellaneous Forums => Recommended Doctors Who Are Knowledgable About Thalassemia => Topic started by: wyrlo on June 21, 2014, 09:20:29 AM
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My sister was diagnosed with Alpha Thalassemia recently, because her son is showing symptoms of the condition. Her son is 3 years old this August and I can't even tell know how many times he's been rushed to the hospital.
Just a brief background: My father had 10 siblings, 6 of them died of cancer. 3 of those who died suffered from leukemia, or so they believed at the time. Now I believe my nephew has it.
He's undergone a lot of tests and they haven't ruled out or diagnosed him with Thalassemia.
I'm worried about them. My sister's Health Insurance Provider, Maxicare, has my nephew covered for P150,000(Philippine Peso) per sickness per year and they have just maxed it out. Any further hospitalization means money from her own pocket. I know for a fact that she cannot afford it. They reached the maximum limit but my nephew is still not diagnosed. He has to go through regular blood transfusion, which is costly.
I joined this group hoping to find someone who can help my nephew get diagnosed of whatever it is that he has. And if anyone knows a place here in the Philippines that can do blood transfusion that isn't too costly, I would highly appreciate it.
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Can you get a copy of his blood work and test results?
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I requested a copy of the bloodwork and test results from my sister. I'm still waiting for a reply. Will it be ok if I post it here?
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You can either post it here or send it to me in a PM.
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Hi, Attached are the Test Results
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These results are unusual to say the least. The Hb is very low and obviously a cause of many health problems. However, none of the numbers make this look like any type of intermedia thal, alpha or beta. As recommended in the results. DNA testing is needed for diagnosis. The cost may be an issue. It should be done though as soon as possible. In addition, it needs to be a comprehensive DNA test that looks for beta thalassemia and both deletional and non-deletional types of alpha thalassemia. If this is the result of thalassemia only, there is a good possibility it is a mix of an alpha thal mutation (not a deletion) and beta thal. These combinations can result in unstable hemoglobin and an Hb level much lower than what is expected with thal minor.
Hb 6.5 Very low
RBC 2.66 quite low for most types of thal. It is usally above 5 in thal minor, but low in iron deficiency.
MCV 71 Typical for alpha or beta carriers and iron deficiency.
RDW 28.9 This is also very high for thal. Usually <18 in thal carriers.
HbF 2 Higher than non-thal and typical of beta thal, but much higher than would be seen in alpha thal.
HbA2 2.8 Would be >5 in beta thal, but could be this low in some forms of alpha thal.
Very unusual numbers.
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I will try to see if we have Comprehensive DNA testing here. :(
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Does anyone know any Doctors in my area that can help my nephew?