Thalassemia Patients and Friends
Discussion Forums => Living with Thalassemia => Topic started by: baal on September 04, 2008, 02:33:38 AM
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hi all
today i get the results of my analysis .....
i tell u later more about my mutation because
first i want to hear about ur mutation.....
so came on every thal witch has made the analysis....
tell us about it.... panos
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Hi ,
My son's mutation is :
IVS1-6
HB knossos codon 27
manal
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hi
first tx for ur reply manal.
now i give u the results of my analysis.
compound heterozygotie ß°ß+(OMIM:141900;ICD-10:D56.1)
BUT......!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
not only this one......
there is an other mutation too in my genes
heterozygote α+-Thalassämie(-α+/αα) (OMIM:141800;ICD-10.D56.0)
so i have a triple mutation in my genes witch is pretty rare.....
the positiv point of vwie is....that the 3rd mutation seemed to be
helpfully and made the thal milder.......
andy could u tell us somethink about it? panos
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Maybe the lack of excessive alpha chains make your condition better as there is a better alpha to beta ratio where the excessive alpha Hb chains damage the RBCs in Beta Thals :dunno
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You are welcome Panos, i really wish i can help, but looks very difficult to me. Will wait for Andy
manal
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Hi Panos,
Your two beta globin genes are both thal, as expected, one being beta 0 which means it produces no beta globin at all, and the other is beta + which means it produces some beta globin which when combined with alpha globin, produces hemoglobin. However, not enough hemoglobin is produced to survive without transfusions. With one of the genes being beta 0 there is a higher chance of your thalassemia being more severe, and this is often the case with patients who carry a beta 0 gene. In your case, you also are an alpha thal carrier. One of your alpha genes is either deleted or defective so you produce a slightly lower than normal amount of alpha globin. As Sajid has suggested the lower amount of alpha globin does play a positive role as there is a closer balance of alpha and beta globin than there would be if you had 4 normal alpha genes. The alpha carrier state actually acts as a modifier of beta thalassemia and results in a somewhat less severe beta thal. So, by being an alpha thal carrier your thalassemia is slightly milder than it would be otherwise. Incidentally, studies have shown that alpha thal trait is carried by over 8% of the Greek population, so it is not uncommon in those of Greek ancestry even though beta thal is more prevalent.