Genotype–phenotype correlation related to lipid profile in beta-thalassemia major and intermedia in southern Iran

doi:10.1016/j.jacl.2011.12.005

Journal of Clinical Lipidology

Volume 6, Issue 2, March–April 2012, Pages 108-113

https://doi.org/10.1016/j.jacl.2011.12.005 Get rights and content

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 β⁰/β⁰ mutation compared with the β⁺/β⁺ group.

Conclusion

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, β⁰ type mutations compared with β⁺ type mutations) affected the degree of reduction in serum lipids.

Section snippets

Patients and methods

This prospective case-control study was conducted at the Hematology Research Center in Shiraz, southern Iran, from 2009 to 2010. The study group consisted of 100 persons with TM (46 male, 54 female) with a mean age of 21.1 ± 4.6 years (range, 10–34 years) and 100 with TI (55 male, 45 female) with mean age of 22.64 ± 6.18 years (range, 11–38 years). They were randomly selected from approximately 700 TM and 200 TI patients who were enrolled at our center, based on the exclusion criteria described

Results

The demographic data and laboratory characteristics of the study population are shown in Table 1. Triglyceride concentrations were greater in TM compared with TI patients and healthy individuals. However, TC, HDL-C, and LDL-C were significantly lower in TI compared with TM patients and controls. The LDL/TG ratio, which is an indicator of LDL oxidation, was significantly lower in TM and TI patients compared with controls but not significantly different between TM and TI patients. Although TC/HDL

Discussion

In this study we evaluated the serum lipid profiles in patients with beta-TM and beta-TI and tried to find links with their genotypic polymorphism. To our knowledge, this is the largest study of the kind conducted with thalassemia patients, especially with regard to the population of patients with TI. As noted earlier, none of our patients had TC values greater than 200 mg/dL or LDL-C values greater than 130 mg/dL. Considering that TC and LDL-C values are lower in patients with thalassemia,

Financial disclosures

This study was supported by Shiraz University of Medical Sciences.

Acknowledgments

We thank Shirin Parand at the Hematology Research Center for editorial assistance and K. Shashok (AuthorAID in the Eastern Mediterranean) for improving the use of English in the manuscript. This manuscript reports research done in partial fulfillment of the requirements for the degree of subspecialty in Pediatric Hematology-Oncology awarded to Mohammadreza Bordbar.

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Abnormal blood lipid levels, such as the TC and other lipids and lipoproteins, adversely affect atherosclerotic diseases. The low total levels of serum cholesterol, HDL cholesterol and LDL cholesterol, with elevated TGs in β-TM patients, compared to control subjects, agree with the findings of other studies regarding the altered serum lipid pattern in β-TM patients, as in Ragab et al. in Egypt19 and Bordbar et al. in Iran.20 These alterations are likely due to diminished hepatic biosynthesis due to anemia and IOL and accelerated erythropoiesis, with excess uptake of cholesterol by macrophages of the reticuloendothelial system, while reduced extrahepatic lipolytic activity could account for the rise in the circulating TG.5
Patients with β-thalassemia major (β-TM) are at risk of developing abnormal lipid profiles. Lipid abnormalities, in turn, have a potential role in the pathogenesis of some clinical aspects of thalassemia
To evaluate lipid levels and atherogenic indices in β-TM patients compared to healthy children and for any association between lipid levels, lipid peroxidation and inflammatory biomarkers
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Original ArticleGenotype–phenotype correlation related to lipid profile in beta-thalassemia major and intermedia in southern Iran

Background

Methods

Results

Conclusion

Section snippets

Patients and methods

Results

Discussion

Financial disclosures

Acknowledgments

J Pediatr

J Clin Lipidol

Atherosclerosis

Biochem Pharmacol

Serum lipid profiles in patients with beta-thalassemia major and intermedia in southern Iran

J Res Med Sci

Hypocholesterolemia in adult patients with thalassemia: a link with the severity of genotype in thalassemia intermedia patients

Eur J Hematol

Plasma lipids and lipoproteins in children and young adults with major beta-thalassemia from western Iran: influence of genotype

Mol Biol Rep

Distribution of serum lipids and lipoproteins in patients with beta thalassemia major; an epidemiological study in young adults from Greece

Lipids Health Dis

Lipid profile in Jordanian children with beta-thalassemia major

Int J Hematol

Serum levels of lipids and lipoproteins in Syrian patients with beta-thalassemia major

Saudi Med J

Beta-thalassemia and factors affecting the metabolism of lipids and lipoproteins

Hematologica (Budap)

Original Article
Genotype–phenotype correlation related to lipid profile in beta-thalassemia major and intermedia in southern Iran