Understanding Genetics

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Offline gwftan

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Understanding Genetics
« on: January 10, 2012, 01:19:20 PM »
I would like inputs on understanding some genetics here.

I've finally got my official result from the last DNA test done in August in my file kept at the hematology clinic I'm seeing.  However, I only managed to browse, didn't remember to read the test result too carefully as its rude to read all the words in my file.

I have -3.7 deletion as well as Hb Adana (Codon 59).  I was a bit confused here, been doing a lot of thinking but not conclusive.  The clinical consultant which I happen to see on that day told me not to be concerned about the Hb Adana because I asked if its better for me to be get follow up in the capital city, in the national thal centre.  One of my old school mate happens to be working with the hospital, told me that if I would like to get follow up treatment I could do so by requesting for a transfer as she has spoken to the clinical hematologist who has agreed.  However, after weighing the costs(air fare and time), I thought it will be better for me to ask the doctors here for opinion, as I feel being detached from the hospital here would cost me the closeness of relationship I've build over the years and treatment in case of emergency.  The clinical consultant told me not to be concerned about Hb Adana as there would be more of the people with the same problem, but never get tested.  Besides, there are a lot of thals in my state compared to the hospital I am asking to be referred to.  At the end, I stopped pursuing, though I was rather curious about the standard care in the other hospital(as they have more specialist in haematology) because I felt very odd to be among many beta thals in my current hospital.

Since I have this -3.7 deletion as well as Hb Adana (Codon 59) does it mean I get it from both my parent's or one parent(mum)?  I understand that my children would inherit half my gene but if I only inherit half my parent's gene, why would my symptoms be more severe than them?  I am trying to understand, rather, be prepared because my daughter has Hb Adana too.  Although her hb are normal, I am hoping she doesn't turn worse, like me in future.

I've gone through my parents records but can't find any answer to my question.  

My dad's records:
Hgb : 12.5 - 15
MCV : 85 - 96
MCH : 28 - 38.5

My mum's records:
Hgb : 12.9 -13.5
MVC : 81
MCH : 22.8

My parents doesn't take many FBC because their medical condition rarely requires them to do so.  These are few of the values I manage to get.  I can see my mum is definitely a thal minor but my dad's record looks rather normal to me.  Both of them have normal bilirubin values too unlike mine. Unless the Hb Adana is a mutation created inside my body? Getting a low hb these days (8-9) really frustrates me these days.
  


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Offline Andy Battaglia

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Re: Understanding Genetics
« Reply #1 on: January 10, 2012, 04:37:18 PM »
Thanks for all the info. As I explained earlier, when codon 59 mutation is mixed with another single alpha mutation, an intermedia like state is a likely outcome. While codon 59 is a single mutation, its affect on the other gene it is paired with is negative, causing suppression of alpha globin production by the healthy gene in that cluster. Combined with the other single mutation in the other pair of alpha genes, the production of alpha globin suffers, and you find yourself with an intermedia condition.

The tests for your parents are normal, which is to be expected when only one alpha mutation is present, so this backs up that they each do only have the one mutation. You most definitely got one gene from each parent. If I was to guess, I would say your mom carries the codon 59 and your dad carries the other mutation. I base this on your reports of their respective health and their blood reports, since the only sign of thal is the lower MCH in your mom's test. Also, of the two, codon 59 would be the more likely to be the cause of minor health problems, typical of thal minor.
Andy

All we are saying is give thals a chance.

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Offline gwftan

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Re: Understanding Genetics
« Reply #2 on: January 11, 2012, 12:25:25 AM »
Dear Andy,

Thanks for the input.  I was merely guessing, but need some sort of confirmation here because some people said my daughter looks a bit pale.  However, to my observation, her finger nails are unlike mine, hers are still reddish.  I am only worry she may turns worse in time to come.   Thank God she's so far healthy, still breastfeeding although she turns 5 which I had a hard time for her to stop.  It may be the only sustenance to keep one a good health.  I did notice the difference between the elder brother who are always sick with flu and cough. 

I don't think its possible for my parents to test their DNA at this present moment, as they don't need family planning any longer.  However, I may try to pursue the hematologist to see if there's any way for them to test it out including my brothers.  Its not easy to do it as we stay in different states in Malaysia.  Once all are sorted out, it will be better for the future generation. 

Thanks again.  Have a good day!

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Offline Andy Battaglia

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Re: Understanding Genetics
« Reply #3 on: January 11, 2012, 01:06:36 AM »
The carriers of codon 59 would be more likely to have anemia symptoms because the gene is a mutation and its length interferes with the function of the paired "normal" alpha gene. So even minors would be likely to have chronic anemia. Again, fiolic acid is recommended. I hope the relatives are willing to be tested. Carriers of codon 59 should know their status so they can avoid having children with a one or two gene alpha carrier.
Andy

All we are saying is give thals a chance.

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Offline gwftan

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Re: Understanding Genetics
« Reply #4 on: January 12, 2012, 01:35:59 PM »
Thanks Andy for the info.  I will ask the doctor on my next review for thal screening for my family.  I am a bit worried about my brothers, especially the one who has just gotten married.  He said his blood test is fine but I asked him to do the DNA test, I think he didn't do it.

Its very difficult to talk to him about this because he thinks its not important and I made a fuss on it by looking for the "mutation".  He don't understand my low hb issues, as well as comparing my health issues with uncles and aunties in their same age.  I think it is very difficult to explain to someone who does not take it seriously, neither he has faced health issues that I faced now, never being anaemic before. 

Having known all this, I am really frustrated with going through this life with a lot of pain issues which no doctor could acknowledge.  They do not agree with my iron overload issues that its creating pain in the muscles and joints & abdominal discomforts, making more frustration for me to seek healing for these discomforts.  I felt I'm like a ball, being going through different departments, seeing different doctors but none conclusive, or maybe I am not sick enough to be paid attention to.

I am also worried about iron loading in internal organs, I am not sure how to get rid of the excess iron there.  As time is catching up with age, I am also stressed to keep the body in a more fit condition as to avoid hereditary diseases in my family.  This makes me pretty sure, these diseases have something to do with being a thal although not proven.

Having known all that, I really take your advice to heart.  I will still pursue my family to take the testing, as for the benefit of futures generation.

Thanks again, Andy.

 

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