Abstract
The clinical experience of the significant difference in iron metabolism between multiple myeloma and myelodysplasia prompted us to analyse patients according to mutation frequency in the hemochromatosis gene (HFE) known to participate in the regulation of iron metabolism. HFE genotyping results were also evaluated in view of the clinical data in multiple myeloma (MM) patients. 49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR–RFLP. Data of serum iron, transferrin saturation, consumed blood units and initial white blood cell counts (WBC) were analysed in relation to the HFE genotype status. 30 out of the 61 MDS patients (49%) and only 9 out of the 49 MM patients (20%) were positive for either HFE variant. Serum iron and transferrin saturation levels were all normal in MM and elevated in MDS patients. The initial WBC were significantly lower in the minority of MM patients who were at the same time heterozygous for the HFE gene variants. We found significant differences in the frequencies of the HFE genetic variants between MDS and MM patients with strong correlation to their iron metabolism. The low WBC in HFE positive MM patients unrelated to bone marrow infiltration rate might raise the suspicion of co-existent myelodysplasia.
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References
Varkonyi J, Tarkovács G, Karádi I, Andrikovics H, Demeter J, Tordai A et al (2003) High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest study on 50 patients. Acta Haematol 109:64–67
Dine G, Genty V, Rehn Y, Brahimi S (2003) Iron overload, MDS and HFE gene mutations: what relation? Leuk Res 27(Suppl 1)122a
Yaouang J, Grobois B, Jounaolle AM, Goasguen J, Leblay R (1997) Haemochromatosis Cys282Tyr mutation in pyridoxine-sensitive sideroblastic anaemia. Lancet 49:1475–1476
Melis MA, Cau M, Deidda F, Barella S, Cao A, Galanello R (2002) H63D mutations in the HFE gene increases iron overload in beta-thalassemia carriers. Haematologica 87(3):242–245
Feder JN, Gnirke A, Thomas W, Tsushiashi Z, Ruddy DA, Basava A et al (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399–408
Beckman LE, Van Landeghem GF, Sikstrom C, Wahlin A, Markevarn B, Hallmans G, Lenner P, Athlin L, Stenling R, Beckman L (1999) Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Carcinogenesis 20:1231–1233
Varkonyi J, Tarkovacs G, Jakab L, Palicz T, Pánczél P, Németh K et al (1999) Myelodysplasia in autoimmune disorders, MGUS and multiple myeloma. Leuk Res 23(Suppl) 25a
Mori M, Abe T, Takei T, Shibata K (1992) The significance of myelodysplasia in untreated patients with multiple myeloma. Rhinochko-Kentsueki 33(5):662–665
Weh HJ, Seeger D, Junge I, Hossfeld DK (1996) Trisomy 8 preceding diagnosis of acute nonlymphocytic leukemia 2 years in a patient with multiple myeloma without cytological evidence of myelodysplasia. Ann Hematol 72(2):81–82
Nelson RL, Davis FG, Persky V, Becker E (1995) Risk of neoplastic and other diseases among people with heterozygozity for hereditary hemochromatosis. Cancer 76:875–879
Frachini M, Veneri D (2004) Iron overload and hematological malignancies. Hematol J 5:381–383
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Várkonyi, J., Demeter, J., Tordai, A. et al. The significance of the hemochromatosis genetic variants in multiple myeloma in comparison to that of myelodysplastic syndrome. Ann Hematol 85, 869–871 (2006). https://doi.org/10.1007/s00277-006-0178-1
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DOI: https://doi.org/10.1007/s00277-006-0178-1