Abstract
Sickle cell disease (SCD) is an inherited hemoglobinopathy caused by a variant (rs344) in the HBB gene encoding the β-globin subunit of hemoglobin. Chronic hemolytic anemia and increased erythropoiesis and RBC turnover in individuals with SCD can result in increased needs for folate and other B-vitamins. We assessed B-vitamin status, and the distribution of folate forms, including unmetabolized folic acid (UMFA), in Canadian children with SCD supplemented with 1 mg/d folic acid (current routine practice). Non-fasted serum and plasma samples were analyzed for concentrations of folate, and vitamins B-2, B-6, and B-12. Eleven individuals (45% male; SCD type: HbSS n = 8, HbSC n = 2, HbSβ0-Thal n = 1), with a median (IQR) age of 14 (7, 18) years, were included. Total folate concentrations were 3–27 times above the deficiency cut-off (10 nmol/L), and 64% of children had elevated folate levels (>45.3 nmol/L). UMFA (>0.23 nmol/L) was detected in all children, and 36% of participants had elevated levels of UMFA (>5.4 nmol/L). All children were vitamin B-12 sufficient (>150 pmol/L), and the majority (55%) had sufficient B-6 status (>30 nmol/L). Among this sample of Canadian children with SCD, there was limited evidence of B-vitamin deficiencies, but UMFA was detectable in all children.
Highlights
Sickle cell disease (SCD) is a rare, inherited hemoglobinopathy that occurs due to a missense variant in the HBB gene encoding the β-globin subunit of hemoglobin [1, 2]
Routine high-dose (1–5 mg/d) folic acid supplementation in SCD is a practice that is intended to prevent the occurrence of folate deficiency and the potential for megaloblastic anemia in this hemolytic condition
In children with SCD, this practice is largely based on a limited body of evidence consisting of one randomized control trial conducted in Jamaican children in 1983, which provided evidence of higher serum folate concentrations but no changes in hematological measures when children were supplemented with 5 mg/d of folic acid [1]
Summary
Sickle cell disease (SCD) is a rare, inherited hemoglobinopathy that occurs due to a missense variant (rs334) in the HBB gene encoding the β-globin subunit of hemoglobin [1, 2] This results in chronic hemolysis and a shortened RBC lifespan [1, 2]. The increased production and turnover of RBCs in SCD is thought to increase the requirements of folate (vitamin B-9), a water-soluble family of compounds that are essential for erythropoiesis [1, 3]. For this reason, individuals with SCD in Canada are routinely prescribed 1–5 mg/d of folic acid, the synthetic form of folate [4]. Deficiencies of vitamins B-2, B-6, or B12 can affect folate-dependent nucleic acid synthesis causing megaloblastic anemia, decrease cellular proliferation, and alter methylation reactions [12, 13]
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