Kariminejad Najmabadi Pathology and Genetics Center and 2 Hasan Seif Street

Tehrān, Iran

Kariminejad Najmabadi Pathology and Genetics Center and 2 Hasan Seif Street

Tehrān, Iran

Time filter

Source Type

Farashi S.,University of Social Welfare and Rehabilitation Sciences | Farashi S.,Kariminejad Najmabadi Pathology and Genetics Center and 2 Hasan Seif Street | Garous N.F.,Kariminejad Najmabadi Pathology and Genetics Center and 2 Hasan Seif Street | Vakili S.,Kariminejad Najmabadi Pathology and Genetics Center and 2 Hasan Seif Street | And 6 more authors.
Hemoglobin | Year: 2016

Hemoglobin (Hb) variants are abnormalities resulting from point mutations in either of the two α-globin genes (HBA2 or HBA1) or the β-globin gene (HBB). Various reports of Hb variants have been described in Iran and other countries around the world. Hb Setif (or HBA2: c.283G>T) is one of these variants with a mutation at codon 94 of of the α2-globin gene that is characterized in clinically normal heterozygous individuals. We here report clinical and hematological findings in two homozygous cases of Iranian origin for this unstable Hb variant. © 2015 Taylor & Francis.


Farashi S.,University of Social Welfare and Rehabilitation Sciences | Farashi S.,Kariminejad Najmabadi Pathology and Genetics Center | Vakili S.,Kariminejad Najmabadi Pathology and Genetics Center | Garous N.F.,Kariminejad Najmabadi Pathology and Genetics Center | And 7 more authors.
Hemoglobin | Year: 2015

In the present study, a total of 11 individuals with hypochromic microcytic anemia who did not reveal the most common α-thalassemia (α-thal) deletions or mutations, were subjected to more investigations by DNA sequencing of the α-globin genes. Seven novel nondeletional α-thal mutations localized on the α2-globin gene in the heterozygous state were identified. These mutations either corrupted regulatory splice sites and consequently affected RNA processing or created unstable hemoglobin (Hb) variants. The mutations described here produced globin gene variants that lead to amino acid changes in critical regions of the globin chain. The clinical presentation of most patients was a persistent mild microcytic anemia similar to an α+-thal. In the last decade, numerous α-globin mutations have been observed leading to an α-thal phenotype and these studies have been considered to be important as discussed here. © 2015 Taylor & Francis.

Loading Kariminejad Najmabadi Pathology and Genetics Center and 2 Hasan Seif Street collaborators
Loading Kariminejad Najmabadi Pathology and Genetics Center and 2 Hasan Seif Street collaborators