Thalassemia Patients and Friends
Discussion Forums => Thalassemia Major => Topic started by: Gurpreet Singh Gill on January 30, 2015, 08:31:00 AM
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Dear Friends,
I will share my Baby Mutational Analysis report to check whether it is major or intermedia thalassemia .
Also tell me which type of thalassemia i.e Alpha or Beta thalassemia
Interpretation:
Compound heterozygous for HBB:c.-138C>T and HBB:c.92 G>C mutations in the
p-globin gene.
Note:- Baby need regular Blood Transfusion from last 8 month ago.Now his age is 15 month.
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Dear Andy,
kindly help to tell which type of thalassemia .
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There are two types of beta thalassemia mutations: those that completely stop beta-globin production and those that only reduce beta-globin production. Mutations that render the HBB gene completely useless for beta-globin protein production are called "beta-zero" thalassemia mutations, and mutations that reduce the amount of beta-globin protein made from the HBB gene are known as "beta-plus" thalassemia mutations. Some beta-plus thalassemia mutations are relatively mild and only slightly reduce beta-globin production.
Gurpreet,
HBB:c.-138C>T is a beta-plus mutation and
HBB:c.92 G>C is a beta-zero mutation
http://lovd.bx.psu.edu/variants.php?select_db=HBB&action=view&view=0001078%2C0001078%2C0
http://lovd.bx.psu.edu/variants.php?select_db=HBB&action=view&view=0000742%2C0000742%2C0
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As Jay as pointed out, the first mutation is a beta+ mutation that on its own is a mild mutation. However, the second mutation is a beta zero mutation. The combination of the two is a beta thal major phenotype, requiring transfusions.
If an alpha thal deletion had been present, it is likely that transfusion would have started at a later date, so I doubt any alpha deletion is present. By themselves, neither mutation is severe, but together, not much hemoglobin can be produced on its own. I would not be surprised if neither parent has had much issue with thal minor.