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Farashi S.,University of Social Welfare and Rehabilitation Sciences | Farashi S.,Kariminejad Najmabadi Pathology & Genetics Center | Rad F.,Kariminejad Najmabadi Pathology & Genetics Center | Rad F.,Yasuje University of Medical science | And 6 more authors.
Hemoglobin | Year: 2016

A distinct set of mutations on the β-globin gene leads to dominantly inherited β-thalassemia (β-thal) that is associated with a disease phenotype in a single mutant copy. We described molecular and hematological characteristics of a novel elongated β-globin chain in combination with a known hemoglobin (Hb) variant (N-Baltimore or HBB: c.286A>G) in cis. The highly unstable Hb variant caused typical features of β-thal major (β-TM) or β-thal intermedia (β-TI) in two members of a family depending on their α-globin genotypes. The β mutant allele of the mother was transmitted in an autosomal dominant fashion to her daughter. They resemble severe forms of β-thal due to ineffective erythropoiesis. Taken together with previously published data, this result indicates that a dominant form of β-thal should be regarded as a phenotypic term of hemoglobinopathies caused by β chain variants that are highly unstable. © 2016 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 9 more authors.
Hemoglobin | Year: 2016

α-Thalassemia (α-thal) is a common genetic disorder in Iran and many parts of the world. Genetic defects on the α-globin gene cluster can result in α-thal that may develop a clinical phenotype varying from almost asymptomatic to a lethal hemolytic anemia. In the present study, four Iranian individuals with hypochromic microcytic anemia, who revealed none of the known mutations responsible for α-thal, were subjected for further investigations. The thalassemic phenotype of these patients resulted from abnormal RNA splicing sites owing to a missense at the splice donor site, a truncated protein or hemoglobin (Hb) variants as a result of two different substitutions on the α1-globin gene. The clinical presentation of mild anemia in these individuals showed the contribution of these novel mutations in α-thal in spite of the dominantly expressed α2-globin gene. This study describes hematological manifestations of subjects carrying some novel mutations comparable to the reported phenotype of α+-thal trait. © 2015 Taylor & Francis.


Farashi S.,University of Social Welfare and Rehabilitation Sciences | Farashi S.,Kariminejad Najmabadi Pathology and Genetics Center | Rad F.,Kariminejad Najmabadi Pathology and Genetics Center | Rad F.,Yasuje University of Medical science | And 6 more authors.
Hemoglobin | Year: 2016

A distinct set of mutations on the β-globin gene leads to dominantly inherited β-thalassemia (β-thal) that is associated with a disease phenotype in a single mutant copy. We described molecular and hematological characteristics of a novel elongated β-globin chain in combination with a known hemoglobin (Hb) variant (N-Baltimore or HBB: c.286A>G) in cis. The highly unstable Hb variant caused typical features of β-thal major (β-TM) or β-thal intermedia (β-TI) in two members of a family depending on their α-globin genotypes. The β mutant allele of the mother was transmitted in an autosomal dominant fashion to her daughter. They resemble severe forms of β-thal due to ineffective erythropoiesis. Taken together with previously published data, this result indicates that a dominant form of β-thal should be regarded as a phenotypic term of hemoglobinopathies caused by β chain variants that are highly unstable. © 2016 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.


Farashi S.,Kariminejad Najmabadi Pathology and Genetics Center | Farashi S.,University of Social Welfare and Rehabilitation Sciences | Garous N.F.,Kariminejad Najmabadi Pathology and Genetics Center | Ashki M.,Kariminejad Najmabadi Pathology and Genetics Center | And 8 more authors.
Hemoglobin | Year: 2015

We describe a case of Hb H disease associated with homozygosity for a two nucleotide deletion in the polyadenylation signal of the α2-globin gene (HBA2: c.∗93-∗94delAA). The patient, a 27-year-old son of a consanguineous couple, needs regular blood transfusions every 6 months. © 2015 Informa Healthcare USA, Inc. All rights reserved.

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