IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.

doi:10.1080/03630269.2017.1308376

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Article

IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.

Hemoglobin - 1 Jan 2017

Azimi Azam, Alibakhshi Reza, Hayati Hasibeh, Tahmasebi Soosan, Alimoradi Sasan

Abstract excerpt

Thalassemia is the most common inherited disorder in Iran. There are approximately 800 different genomic alterations of the β-globin gene described in the HbVar database. In this study, we identified a novel mutation in a 21-year-old woman [IVS-II-648/649 (-T); HBB: c.316-202del)] and describe it...

Topics

Adult
Alleles
Child, Preschool
DNA Mutational Analysis
Erythrocyte Indices
Female
Genetic Association Studies
Heterozygote
Humans
Introns
Male
Middle Aged
Phenotype
Sequence Deletion
Young Adult
beta-Globins
beta-Thalassemia

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