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Farashi S.,University of Social Welfare and Rehabilitation Sciences | Farashi S.,Kariminejad Najmabadi Pathology and Genetics Center | Bayat N.,Kariminejad Najmabadi Pathology and Genetics Center | Vakili S.,Kariminejad Najmabadi Pathology and Genetics Center | And 7 more authors.
Expert Review of Hematology | Year: 2016

Background: Hb H disease is an alpha-thalassemia (α-thal) syndrome characterized by chronic hemolytic anemia that occurs when three of total four α-globin genes lost their function due to completely deletions or different kind of mutations. Objective: We here described 66 patients who have been diagnosed for Hb H disease during the last five years in our center. The genotypes involving point mutations present more severe phenotype than deletional forms that make them of primary important to health management. Study design: Hb H subjects carry different α-globin genotypes including deletional and nondeletional mutations showing heterogenous clinical manifestations. Results: The Hb H patients presenting a wide range of phenotype carried different deletional, non-deletional mutations or compound heterozygosity of them. Conclusion: We emphasize the importance of some point mutations responsible for more severe form of Hb H disease in Iranian population and the necessity for consideration of prenatal diagnosis (PND) in high-risk couples. © 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 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 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.


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.


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 | Faramarzi Garous N.,Kariminejad Najmabadi Pathology and Genetics Center | And 6 more authors.
Expert Review of Hematology | Year: 2015

Background: Copy number variations in α-globin genes are results of unequal crossover between homologous segments in the α-globin gene cluster that misalign during the meiosis phase of the gametogenesis process. Reduction or augmentation of α-globin genes leads to imbalance of α/β chains in hemoglobin tetramer and consequently attenuate or worsen the β-Thal clinical symptoms, respectively. Objective: Multiplications in α-globin genes have been found in some populations, justifying unexpected severe phenotype of β-Thal carriers. Study design: Unexpected severe phenotype in the family members may result from coexistence of extra α-globin genes, which is an important factor in the causation of thalassemia intermedia and major in heterozygous β-Thalassemia. Results: We described different multiplications in α-globin locus in an Iranian family with one, two or three extra α-globin genes (ααα/αα, αααα/αα and αααα/ααα). Conclusion: The excess α-globin gene/genes cause increment in β/α chain imbalance and leads to worsening pathophysiology and clinical severity of β-Thalassemia carriers. © 2015 © Informa UK, Ltd.


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

Hb H (β4) disease is caused by deletion or inactivation of three out of four α-globin genes. A high incidence of Hb H disease has been reported all over the world. There is a wide spectrum of phenotypic presentations, from clinically asymptomatic to having significant hepatosplenomegaly and requiring occasional or even regular blood transfusions, even more severe anemia, Hb Bart's (γ4) hydrops fetalis syndrome that can cause death in the affected fetuses late in gestation. We here present a case who was diagnosed with Hb H disease that represents a new genotype for this hereditary disorder. Hb Dartmouth is a variant caused by a missense mutation at codon 66 of the α2-globin gene (HBA2: c.200T>C), resulting in the substitution of leucine by proline. We here emphasize the importance of this point mutation involving Hb H disease and also the necessity for prenatal diagnosis (PND) for those who carry this point mutation in the heterozygous state. © 2015 © 2015 Informa Healthcare USA, Inc. All rights reserved: reproduction in whole or part not permitted.

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