NDLI: Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Nasouhipur, Hengameh Banihashemi, Ali Youssefi Kamangar, Reza Akhavan-Niaki, Haleh
Description	Country affiliation: Iran Author Affiliation: Nasouhipur H ( Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.); Banihashemi A ( Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.); Youssefi Kamangar R ( Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.); Akhavan-Niaki H ( Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran )
Abstract	ß-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 GCCâTCC (AlaâSer), 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 ß(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.
File Format	HTM / HTML
ISSN	09714502
e-ISSN	09740449
DOI	10.1007/s12288-014-0343-y
Journal	Indian Journal of Hematology and Blood Transfusion
Issue Number	Suppl 1
Volume Number	30
Language	English
Publisher	Springer
Publisher Date	2014-09-01
Publisher Place	India
Access Restriction	Open
Subject Keyword	Discipline Hematology
Content Type	Text
Resource Type	Article
Subject	Hematology

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Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia

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Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia.

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Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia

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Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia.

Two new hemoglobin variants: Hb Aix-Les-Bains [ß5(A2)ProâLeu; HBB:c.17 C>T] and Hb Dubai [ 122(H5)HisâLeu ( 2); HBA2:c.368 A>T].