title: Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia.
abstract: β-thalassemia is the most common single gene disorder worldwide and in Iran. In the present study we report for the first time a rare variant of hemoglobin HBB:c.82G>T; Codon 27 GCC→TCC (Ala→Ser), Hb Knossos, using sequencing and reverse dot blot hybridization, in members of a family from North Iran. The family has a 16 years-old compound heterozygous thalassemia intermedia male child presenting this variant together with HBB:c.315+1G>A (IVSII-I) mutation. The father, heterozygous for Hb Knossos, showed borderline hematological indices. To our knowledge, this is the first report of Hb Knossos in trans with the β(O) IVSII-I allele leading to thalassemia intermedia. Our data also highlight the necessity of deep molecular characterization of subjects presenting normal HbA2 level associated with abnormal or borderline red cell indices.
authors.affiliation: Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.
authors.forename: Hengameh
authors.initials: H
authors.lastname: Nasouhipur
authors.affiliation: Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Banihashemi
authors.affiliation: Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Youssefi Kamangar
authors.affiliation: Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran ; Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.
authors.forename: Haleh
authors.initials: H
authors.lastname: Akhavan-Niaki
keywords: Hb Knossos; Iran; Thalassemia intermedia