Hi Andy,
I have some questions that had been bothering me for months. I wanted to post this earlier but I was quite busy doing “research” and still cannot satisfy myself with the findings, some readings was so extensive that I don’t quite understand them at all especially genetics so I wanted to ask for your opinion.
Sometimes back I asked you about my alpha thal. I told you that my daughter’s DNA testing reviewed that she has a Codon 59 deletion. However, my haematologist would not take that for my alpha thal condition and instead ordered another DNA analysis last month. She even upgraded my thal status to Hbh!
Last month when my Hb dropped to 8, my haematologist ran hb electrophoresis. I managed to copy the important notes(after the junior doctor let me copy it). I only jot down important notes.
HbA 94.3
HbF 3.8
HBA2/E(I think E?, my paper is not clear) 1.9
H inclusion positive
SEAH0E α3.7
2006 DNA analysis suggested No αSEA deletion detected. Other mutation not available then.
2007 DNA analysis for α thal showed α3.7 carrier state only
2009 Took another sample. I don’t know this result. My daughter’s DNA analysis detects Codon 59 deletion.
I don’t have all the test result for all the DNA testing. It was kept in the file in the thal clinic. I only have bits and pieces that the doctor wrote to request for more testing which I copied down for own reference.
My question, if I’m having SEA deletion, - α3.7 deletion and a Codon 59 mutation, does that put it both my parents are also alpha thal as well? Then one of them must have SEA deletion and another with α-3.7 deletion. So Codon 59 comes from which deletion? That means all this while I’m HbH? The Codon 59 mutation, can it come from a non-thal, like my husband or a spontaneous mutation? My haematologist is more concerned to know what type of thal I’m but I’m more concerned to know why is the hemolysis and how to get rid of my excess iron and what future lies for me.
Tracing back my ancestry, I am actually convinced my father is a thal too because I still remember my uncle’s wife(my father’s side) has a hydrop fetalis when I was still young. My mum had few miscarriages and the last baby she had had growth restriction, ie the fetus was not growing for few weeks. She had it terminated because she’s unwilling to think of raising a retarded child as the doctor warned the child may be retarded. I have a cousin(mum’s side) is a slow learner(as my uncle called him), could he be having ATR-16 syndrome, he actually had a bit of look like down syndrome child. How do one gets a ATR-16 syndrome child? Does it pass down from one thal parent or both parents has to be thal? After reading so many articles, I’m actually considering whether I should have or should not have anymore children, there are so many risks involved, Codon 59, ATR-16.
For my children how do they inherit my thal? Do they inherit it by what my parents are having if I’m a HbH? I’m thinking of bringing them for DNA testing when they are older to get the specific gene mutation/deletions when technology are more advanced. Now its good to know they are alpha thal but they would need to know what specific type when they are setting up their family.
As for iron overload, I’m thinking of getting IP6 overseas. I’ve just asked my brother to find out whether he can make the purchases in Singapore as he is working there. He kept telling me supplements in Singapore is very expensive, I should try get it elsewhere like Australia nevertheless he will help me to look for it during his free time. Do you know whether it is easy to get it over the counter in Singapore or Australia? I may need to ask my cousin to get it in Australia when she came back for holiday for Christmas.
My haematologist is not quite willing to solve my iron problem with Ferritin 1014ng/mL and said with Hb 8, she won’t start any chelation programme. Whilst on the last visit, the junior doctor keep me in KIV said my Ferritin is still “OK”. I’m more worried about organ damage as my family especially my mum’s side has a history of diabetes, cancer, hypertension, etc etc. I asked my haematologist about green tea she told me it can remove some only which is to me not good enough since I’m probably absorbing more iron from the gut. I asked her whether there’s other natural way to remove the iron, she told me only chelators!
I also had a 1 pack RBC transfusion last month, not that I wanted it but because I’m travelling overseas. I’m worried about my Hb dropping in overseas(which i think had dropped as I just came back) and also partly I wanted to experience the difference between pre-transfusion and post-transfusion. After the transfusion, I was actually rather disappointed with the outcome as I was feeling so sleepy all the time although I feel less tired limbs when climbing stairs. However, it took a few days for the sleepiness to go away. I took a blood test with a private doctor together with other tests and Hb was 9.8. I was doubting this actually because the lab that the doctor sent for the test is the one which tested my Hb Electropheris normal.
Two weeks post transfusional, I had an appointment with the thal clinic, my hb registers 8.9 which was a disappointment. I asked the junior doctor why the hb was so low and he said its probably because the RBC that I had may have shorter life span. I am actually worried on my unstable Hb this year, whether I have other underlying problems.
Do you know whether detoxing the liver and gallbladder works for thal? I thought the liver and gallbladder must be overworked with iron overload. I’ve gone for a liver and gallbladder talk and the speaker suggested detox method by Dr. Hulda Clark to get rid of gallstones. I was wondering whether there are any significant change by using the method as thals would have problems with liver and gallbladder stones and for general health. I pose the question to him about getting rid of iron overload, he can’t answer me, then I found out he’s not a nutritionist, a teacher by profession.
Sorry if I asked too many questions because most of the time the doctors cannot suggest to me a better answer. They either tell me I’m ok although I glimpsed my report was “not ok to me with so many highlight” and wait for my symptoms to get worse probably, by then I’m probably “confirmed” to be having the problem which I’m trying to avoid here as I remembered reading in Genetic and Clinical Features of Hemoglobin H Disease in Chinese Patients findings iron overload that the liver was moderately overload in MRI with ferritin of 304 while doctors here are still relying on blood test to make a conclusive diagnosis.
Thank you.
Regards,
Gracia