title: Genotype-phenotype correlation related to lipid profile in beta-thalassemia major and intermedia in southern Iran.
abstract: BACKGROUND
  Beta-thalassemia is commonly associated with lipid abnormalities. The aim of this study was to search for links between these lipid alterations and different types of β-thalassemia mutations.
  
  
  METHODS
  The study, conducted from 2009 to 2010, included 100 patients with thalassemia major (TM) and 100 with thalassemia intermedia (TI). The control group was selected from 100 age- and sex-matched healthy individuals with normal hematologic indices. Serum lipid profiles, including total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides (TG), were determined and their relationship with different covariates, including different β-globin gene mutations, was analyzed.
  
  
  RESULTS
  Patients with TI had significantly lower values for TC, LDL-C, HDL-C, and LDL-C/HDL-C ratio compared with TM patients and controls (P < .001). TG was greater in TM compared with TI patients (P = .001) and healthy individuals (P = .007). Hemoglobin was positively associated with TC (P < .001), LDL-C (P = .004), and HDL-C (P = .01) in TM patients. Splenectomy correlated with greater TC (P = .006) and LDL-C (P = .01) in TI patients, but only with greater LDL-C in TM patients (P = .02). The average amounts of TC and LDL-C were lower in persons with the β(0)/β(0) mutation compared with the β(+)/β(+) group.
  
  
  CONCLUSIONS
  Lower amounts of TG, TC, LDL-C, and HDL-C were seen in TI patients compared with TM patients and healthy individuals. The severity of the genotype (ie, β(0) type mutations compared with β(+) type mutations) affected the degree of reduction in serum lipids.
authors.affiliation: Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Bordbar
authors.forename: Sezaneh
authors.initials: S
authors.lastname: Haghpanah
authors.forename: Abdolreza
authors.initials: A
authors.lastname: Afrasiabi
authors.forename: Javad
authors.initials: J
authors.lastname: Dehbozorgian
authors.forename: Mehran
authors.initials: M
authors.lastname: Karimi
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D007492:Iran; D008055:Lipids / Q000097:blood*; D008297:Male; D009154:Mutation; D010641:Phenotype; D055815:Young Adult; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics* / Q000473:pathology
chemical_list: D008055:Lipids