Clinical and Experimental Pediatrics

Original Article

Hematology

Hyperhomocysteinemia in pediatric β-thalassemia: links to vitamin cofactor deficiencies and oxidative stress

Arzu Dadashova, Gunay Aliyeva, Rana Rahimova, Gulnara Azizova, Khayala Mammadova

Clin Exp Pediatr. 2025;68(10):819-830. Published online July 8, 2025

Question: What are the biochemical and clinical correlates of hyperhomocysteinemia in pediatric β-thalassemia, and how does it relate to vitamin status, oxidative stress, and splenectomy?
Finding: Most pediatric β-thalassemia patients exhibited severe hyperhomocysteinemia, which was strongly associated with folate and B₁₂ deficiencies and influenced oxidative stress patterns, particularly in splenectomized individuals.
Meaning: These findings suggest that routine monitoring and correction of B-vitamin deficiencies may mitigate hyperhomocysteinemia-related risks in pediatric thalassemia.

DOI: https://doi.org/10.3345/cep.2025.00556

Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population

Kyung Lim Yoon, Jin Hee Ko, Kye Shik Shim, Mi Young Han, Sung Ho Cha, Su Kang Kim, Joo Ho Jung

Clin Exp Pediatr. 2011;54(8):335-339. Published online August 31, 2011

Crossref 3

Purpose

Hyperhomocysteinemia is known as a risk factor for atherosclerosis. Preclinical arteriosclerosis is noted and premature atherosclerosis is known to be accelerated in Kawasaki disease (KD) patients. Genetic polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene result in elevated plasma homocysteine concentrations and are known to be associated with the development of coronary artery disease. Our hypothesis is that single nucleotide polymorphisms...

DOI: https://doi.org/10.3345/kjp.2011.54.8.335

Methylenetetrahydrofolate Reductase(MTHFR) Gene Expression in Kawasaki Disease

Hye Ryung Choi, Ae Ra Joo, Hae Soon Kim, Sejung Sohn, Young Mi Hong

Clin Exp Pediatr. 2004;47(7):774-778. Published online July 15, 2004

Purpose : Hyperhomocysteinemia is known as an independent risk factor for cardiovascular diseases such as atherosclesosis and myocardiac infarct. A common mutation in 5, 10-methylenetetrahydrofolate reductase(MTHFR) gene results in a valine for alanine substitution, which makes enzyme thermolabile and reduces enzymal activity. We examined the relation of MTHFR genetic mutation and Kawasaki disease. Methods : We extracted DNA from the peripheral...

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A Study of Homocysteine Metabolism related Neural Tube Defect

Baeck Hee Lee

Clin Exp Pediatr. 1998;41(1):110-114. Published online January 15, 1998

Purpose : Methylenetetrahydrofolate reductase is an important enzyme in homocysteine metabolism. Since the identification of the gene locus and mutation of methylenetetrahydrofolate reductase, an increasing number of reports have suggested that elevated levels of homocysteine were associated with various kinds of arteriovascular disease and neural tube defect. Our research plans to investigate whether elevated levels of homocysteine are more common with neural tube defect and...

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