Vol 44, No 3 (2013)
Prace oryginalne / Original research articles
Published online: 2013-07-01

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Mild hyperhomocysteinemia in patients with essential thrombocythemia (ET) and its relation with MTHFR gene mutation and folic acid concentration

Bożena Sokołowska1, Ksenia Bykowska2, Ewa Mendek-Czajkowska2, Aleksandra Nowaczyńska1, Adam Walter-Croneck1, Tomasz Gromek1, Anna M. Kowalska3, Sylwia Chocholska1, Katarzyna Wejksza4, Martyna Kandefer-Szerszeń4, Adam Sokołowski5, Jerzy Windyga2, Krzysztof Warzocha2, Anna Dmoszyńska1
DOI: 10.1016/j.achaem.2013.07.025
Acta Haematol Pol 2013;44(3):333-339.


In this study we assessed homocysteine level in 106 patients with ET – 80 females and 26 males, mean age 54 (23–82) and in 20 healthy persons – 6 males and 14 females, mean age 41 (31–54). We also searched for a relation between homocysteine level and MTHFR gene mutation as well as vitamin B12 and folic acid concentration. Median homocysteine serum level was higher in ET patients than in control group. Elevated homocysteine level primarily stems from folic acid deficiency rather than from the presence of MTHFR gene mutation. Median folic acid level was lower in ET patients presenting thrombotic and bleeding complications than in ET patient without vascular episodes. We concluded that folic acid substitution may not only prevent hyperhomocysteinemia but also the development of vascular complications in ET patients.

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