Abstract:
:We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to the deletion of the first nucleotide (-A) at codon 120, results in a β-globin chain that is elongated to 156 amino acid residues. These highly unstable abnormal chains precipitate in the erythroblasts as inclusion bodies, thus causing inefficient erythropoiesis and ultimately resulting in the observed dominant clinical phenotype.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Amato A,Cappabianca MP,Perri M,Zaghis I,Mastropietro F,Ponzini D,Di Biagio P,Piscitelli Rdoi
10.3109/03630269.2012.718309subject
Has Abstractpub_date
2012-01-01 00:00:00pages
480-4issue
5eissn
0363-0269issn
1532-432Xjournal_volume
36pub_type
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