Abstract
IntroductionSickle cell disease (SCD) patients are susceptible to the development of vitamin D deficiency (VDD). Vitamin D through binding to vitamin D receptor (VDR) exerts its function and affects gene transcription in target tissues. VDR gene variants affect bone mineral density.MethodsIn a case‐control study, 101 SCD patients including 61 sickle cell anemia (SCA), 39 S/β‐thalassemia, and 1 HbS/HbD (SD) along with 110 healthy individuals from Kurdistan of Iraq were studied. The lipid profile, vitamin D level, FokI, and TaqI variants of VDR and group‐specific component (GC) were detected using the standard enzymatic method, the immunodiagnostic systems limited EIA kit and PCR‐RFLP methods, respectively.ResultsAround 93% and 82% of SCA and S/β‐thalassemia patients, respectively, had VDD compared to 83% of healthy individuals. Severe VDD (<10 ng/ml) was detected in 78.7% of patients with HbSS. Plasma levels of total cholesterol, HDL‐C, and LDL‐C in SCD patients were significantly lower compared to controls. Vitamin D levels were negatively correlated to TG and positively correlated to total cholesterol and HDL‐C. The frequencies of the C allele of FokI were 81.7% (p = 0.003), 80.3% (p = 0.034), and 84.6% (p = 0.011) in all SCD, SCA, and S/β‐thalassemia patients, respectively, compared to 69.1% in controls. However, no significant difference was detected comparing the frequencies of VDR TaqI and GC polymorphisms between SCD patients and controls.ConclusionIn the present study, we found hypocholesterolemia, high prevalence of VDR FokI C allele, and low vitamin D levels among children and adults with SCD from Kurdistan of Iraq.
Highlights
The mutation of βS (Cd6 Glu > Val) in a homozygous state causes a serious illness, sickle cell anemia (SCA), with a generally shortened life span
Around 93 and 82% SS and S/β thalassemia patients, respectively had vitamin D deficiency compared to 83% healthy individuals
Plasma levels of total cholesterol, high density lipoproteincholesterol (HDL-C), and low density lipoprotein-cholesterol (LDL-C) in SCD patients were significantly lower compared to controls
Summary
The mutation of βS (Cd6 Glu > Val) in a homozygous state causes a serious illness, sickle cell anemia (SCA), with a generally shortened life span. In SCA and homozygous β-thalassemia patients compared to normal individuals decreased cholesterol concentrations has been reported. The hemolytic stress was associated with a significant reduction in plasma lipid levels [total cholesterol, low density lipoprotein-cholesterol (LDL-C) and, high density lipoproteincholesterol (HDL-C)] except for triglycerides (TG) in SCA and sickle/β-thalassemia patients compared to sickle cell trait and normal individuals (1). Among children and adolescents with major β-thalassemia, the levels of total cholesterol, LDL-C, and HDL-C were significantly lower and the TG was significantly higher compared to healthy controls (2). In SCD patients, vitamin D deficiency (VDD) is highly prevalent, reaching up to 96% of the population (3). Some bone complications of SCD may be caused or at least exacerbated by VDD (3). Sickle cell disease patients are susceptible to the development of vitamin D deficiency.
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