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Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1
- Source :
- Haematologica, 98, 420-3, Haematologica, 98, 3, pp. 420-3
- Publication Year :
- 2013
- Publisher :
- Ferrata Storti Foundation, 2013.
-
Abstract
- Contains fulltext : 118639.pdf (Publisher’s version ) (Open Access) Somatic mutations of the RNA splicing machinery have been recently identified in myelodysplastic syndromes. In particular, a strong association has been found between SF3B1 mutation and refractory anemia with ring sider-oblasts, a condition characterized by ineffective erythropoiesis and parenchymal iron overload. We studied the relationship between SF3B1 mutation, erythroid activity and hepcidin levels in myelodysplastic syndrome patients. Erythroid activity was evaluated through the proportion of marrow erythroblasts, soluble transferrin receptor and serum growth differentiation factor 15. Significant relationships were found between SF3B1 mutation and marrow erythroblasts (P=0.001), soluble transferrin receptor (P=0.003) and serum growth differentiation factor 15 (P=0.033). Serum hepcidin varied considerably, and multivariable analysis showed that the hepcidin to ferritin ratio, a measure of adequacy of hepcidin levels relative to body iron stores, was inversely related to the SF3B1 mutation (P=0.013). These observations suggest that patients with SF3B1 mutation have inappropriately low hepcidin levels, which may explain their propensity to parenchymal iron loading.
- Subjects :
- Ineffective erythropoiesis
Male
medicine.medical_specialty
Iron
Iron metabolism Pathogenesis and modulation of inflammation [IGMD 7]
medicine.disease_cause
03 medical and health sciences
0302 clinical medicine
Germline mutation
Hepcidins
Hepcidin
Internal medicine
hemic and lymphatic diseases
medicine
Humans
Alleles
Soluble transferrin receptor
Aged
Aged, 80 and over
Mutation
biology
Myelodysplastic syndromes
Hematology
Articles
Middle Aged
Ribonucleoprotein, U2 Small Nuclear
Iron metabolism Aetiology, screening and detection [IGMD 7]
medicine.disease
Phosphoproteins
Ferritin
Endocrinology
030220 oncology & carcinogenesis
Myelodysplastic Syndromes
Ferritins
biology.protein
Female
GDF15
RNA Splicing Factors
030215 immunology
Subjects
Details
- Language :
- English
- ISSN :
- 03906078
- Database :
- OpenAIRE
- Journal :
- Haematologica, 98, 420-3, Haematologica, 98, 3, pp. 420-3
- Accession number :
- edsair.doi.dedup.....375ef4ae339f32fc3676ccd4fefa42f7