title: First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain.
abstract: 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.
authors: a Genetics Research Center, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.|b Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors: Samaneh
authors: S
authors: Farashi
authors: b Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.|c Yasuje University of Medical Sciences , Yasuje , Iran.
authors: Fariba
authors: F
authors: Rad
authors: d Childrens's Medical Center, Pediatrics Center of Excellence , Tehran , Iran.
authors: Bahram
authors: B
authors: Shahmohammadi
authors: b Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors: Hashem
authors: H
authors: Imanian
authors: b Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.|e Iranian Blood Transfusion Organization, High Institute for Transfusion Research Center , Tehran , Iran.
authors: Azita
authors: A
authors: Azarkeivan
authors: a Genetics Research Center, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.|b Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors: Hossein
authors: H
authors: Najmabadi
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003062:Codon; D004909:Erythrocyte Indices; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D020440:Gene Duplication; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins
keywords: dominantly inherited β-thalassemia (β-thal); erythropoiesis; α-Globin genes