Serum folate and cytokines in heterozygous β-thalassemia

Introduction: Folate deficiency is commonly reported in β-thalassemia. Individuals heterozygous for β-thalassemia may have higher folate requirements than normal individuals. Objectives: To document the concentration of serum total folate and its forms in β-thalassemia heterozygote users (β-TmU) and nonusers (β-TmN) of 5 mg folic acid/d; to determine whether folic acid (FA) consumption from fortified foods allows beta-Tm patients, who do not take FA supplements, to meet their dietary folate requirements; and to investigate the association between higher serum unmetabolized folic acid (UMFA) and inflammatory cytokine concentrations. Methods: Serum total folate and forms were measured in 42 β-Tm (13 β-TmU and 29 β-TmN) and 84 healthy controls. The mononuclear leucocyte mRNA expression of relevant genes and their products and hematological profiles were determined. Results: β-TmU had higher serum total folate, 5-methyltetrahydrofolate, UMFA, and tetrahydrofolate (THF) compared with β-TmN. The β-TmN had lower serum total folate and THF than controls. Plasma total homocysteine (tHcy) was lower in β-TmU compared with both β-TmN and controls, while β-TmN had higher tHcy than controls. β-TmU had higher IL-8 than their controls while β-TmN had higher IL-6 and IL-8 than their controls. β-TmU have higher levels of serum total folate, 5- methyltetrahydrofolate, UMFA, and THF than controls. There was no association between UMFA concentrations and cytokine levels. Conclusions: Mandatory flour fortification with FA in Brazil may be insufficient for β-TmN, since they have higher tHcy and lower serum total folate than controls. Furthermore, β-TmN have higher IL-6 levels than β-TmU. UMFA was not associated with inflammatory cytokine levels.