title: Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population.
abstract: Homozygous Hb E [β26(B8)Glu→Lys; HBB: c.79G > A] is a clinically mild disease with no significant symptoms. Very few studies are available on clinical variability in Hb E disorders. We report the profile of a series of homozygous Hb E patients in the Indian population. We analyzed various genetic factors that contribute to the heterogeneity in the phenotype of homozygous Hb E patients. Analysis of these parameters further enhances our understanding of the Hb E syndrome.
authors.affiliation: a Department of Haematology , Christian Medical College , Vellore , Tamil Nadu , India.
authors.forename: Divya
authors.initials: D
authors.lastname: Jayasree
authors.affiliation: a Department of Haematology , Christian Medical College , Vellore , Tamil Nadu , India.
authors.forename: Ramachandran V
authors.initials: RV
authors.lastname: Shaji
authors.affiliation: a Department of Haematology , Christian Medical College , Vellore , Tamil Nadu , India.
authors.forename: Biju
authors.initials: B
authors.lastname: George
authors.affiliation: a Department of Haematology , Christian Medical College , Vellore , Tamil Nadu , India.
authors.forename: Vikram
authors.initials: V
authors.lastname: Mathews
authors.affiliation: a Department of Haematology , Christian Medical College , Vellore , Tamil Nadu , India.
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.affiliation: a Department of Haematology , Christian Medical College , Vellore , Tamil Nadu , India.
authors.forename: Eunice S
authors.initials: ES
authors.lastname: Edison
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001459:Bangladesh; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006446:Hemoglobin E / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: C486563:BCL11A protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D006446:Hemoglobin E
keywords: BCL11A gene; India; heterogeneity; homozygous Hb E