Thalassemia Patients and Friends

Discussion Forums => Thalassemia Intermedia => Topic started by: asma on July 05, 2013, 03:25:08 PM

Title: Is fr 8/9 (+G) same as codon 8/9 (+G)
Post by: asma on July 05, 2013, 03:25:08 PM

Hi
Can someone plz tell me is Fr 8/9 (+G ) the same as codon 8/9 (+G )

Title: Re: Is fr 8/9 (+G) same as codon 8/9 (+G)
Post by: Andy Battaglia on July 06, 2013, 02:36:04 AM

Yes, FSC stands for frameshift codon.

Title: Re: Is fr 8/9 (+G) same as codon 8/9 (+G)
Post by: asma on July 06, 2013, 08:07:46 AM

Thanks Andy you are always great help. As you might remember my daughters DNA reports were not matching mine. So we got all three of us tested again. Now we have found out that

alyshah (daughter) is codon 8/9 +G and Cap +1 mutations
Mom  cap + 1
Dad codon 8/9 +G

Before this they said she is cd 15 and codon 8/9 +G . My question is that does her mutations now make her a milder thalassemia intermedia or does mutation type not make a difference. Her hb stays between 6-8 and she is on hydroxyurea.

Title: Re: Is fr 8/9 (+G) same as codon 8/9 (+G)
Post by: Andy Battaglia on July 06, 2013, 10:41:11 PM

Both beta thal mutations listed are beta+. This would result in a mild intermedia state. I don't think the DNA testing has been accurate, as the child's Hb is lower than would be expected from this combination of two mild mutations. the original explanation may have been the correct one.

Title: Re: Is fr 8/9 (+G) same as codon 8/9 (+G)
Post by: asma on July 06, 2013, 11:27:15 PM

Andy we have gotten her tested at total three places. She came out as cap +1 at two of them. Me myself (mom) has also gotten tested at three places and I came out as cap +1 at two of them. My hb electropherosis is also normal. My own father also got tested at one place and was found out as cap+1, his hb electropherosis also comes out as normal. Only one place told us that me and my daughter are cd 15.
Is it possible that her current low hb is due to different infections she keeps getting during the past few months. Btw when we first found out that she was intermedia we got her hb tested during severe urine infection for which she took antibiotic for 10 days !!!!! Her hb was 7.4 at that time. She also had stomach worms which we got rid off. Is it still possible that she is a mild intermedia????

Title: Re: Is fr 8/9 (+G) same as codon 8/9 (+G)
Post by: Andy Battaglia on July 06, 2013, 11:31:35 PM

For how long has she been using hydroxyurea? Was she having infections before then?

Title: Re: Is fr 8/9 (+G) same as codon 8/9 (+G)
Post by: asma on July 07, 2013, 03:25:19 AM

She has only used it for 2 weeks and she had just recovered from infection before starting it and after using it for 15 days unfortunately she got infection and stomach upset so we stopped for about 10 days she also too antibiotic again during these 10 days ( had fever) . Now she is back on HU for past 4 days. I just pray she doesnt get sick again and we continue with HU without interruption this time. Btw even in fever her hb didn't go below 6.2.....