title: Effect of a group of genetic markers around the 5' regulatory regions of the β globin gene cluster linked to high HbF on the clinical severity of β thalassemia.
abstract: The clinical and hematological course of β thalassemia intermedia is influenced by a number of genetic factors which play a role in increasing fetal haemoglobin levels. Several polymorphisms located in the promoters of β and γ globin gene are involved in influencing the disease severity. Our objective was to study the effect of cis-DNA haplotypes, motifs, or polymorphisms (Pre G γ globin gene haplotypes, Aγ-δ intergenic region haplotypes XmnI and (AT)(x)(T)(y) polymorphisms, β-LCR HS2 and HS3 site motifs) that may contribute to higher HbF levels and a milder clinical course. We found that a combination of T haplotype of the Aγ-δ intergenic region, TAG Pre-Gγ haplotype, presence of the XmnI polymorphism along with the (AT)(9)(T)(5) motif constitutes a topography that co-relates with raised HbF levels which may contribute in ameliorating the disease severity.
authors.affiliation: National Institute of Immunohaematology (ICMR), 13th Floor, New Multistoried Building, K.E.M. Hospital Campus, Parel, Mumbai 4000 12, India.
authors.forename: Pooja
authors.initials: P
authors.lastname: Dabke
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
authors.forename: K
authors.initials: K
authors.lastname: Ghosh
authors.forename: Anita
authors.initials: A
authors.lastname: Nadkarni
mesh_terms: D020121:5' Untranslated Regions; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005319:Fetal Hemoglobin / Q000235:genetics*; D023061:Gene Order; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007223:Infant; D059372:Nucleotide Motifs; D011110:Polymorphism, Genetic; D012045:Regulatory Sequences, Nucleic Acid; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D005819:Genetic Markers; D055544:beta-Globins; D005319:Fetal Hemoglobin