Abstract:
:There are four copy numbers of α-globin genes (16p13.3) in the human genome and the number of defective α-globin genes dictates the severity of α-thalassemia (α-thal). Mutations that occur in the 3' untranslated region (3'UTR), and especially at the polyadenylation (polyA) sites, affect the translation, stability and export of mRNA. A patient with hypochromic microcytic anemia was referred to the Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran by the health network. Molecular analysis of genomic DNA for the evaluation of mutations on the α- and β-globin genes was performed. Direct sequencing of the hemoglobin (Hb) subunit α2 (HBA2) gene revealed a two nucleotide deletion between +816 and +817 in the 3'UTR, located at the polyA site, which seems to be a novel pathogenic variant. This novel variant expands the genetic spectrum of α-thal in the 3'UTR of the HBA2 gene.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Forouzesh Pour F,Karimi K,Ghaderi Z,Tavakoli Koudehi A,Najmabadi Hdoi
10.1080/03630269.2020.1831529subject
Has Abstractpub_date
2020-11-01 00:00:00pages
423-426issue
6eissn
0363-0269issn
1532-432Xjournal_volume
44pub_type
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