Articles Related to myelodysplastic syndromes
An Insight into the Role of Spliceosomal Mutations in Myelodysplastic Syndromes
The identification of altered splicing signatures in Myelodysplastic Syndromes (MDS) could likely provide key markers for diagnosis, prognostication and development of novel therapeutics. This review presents an insight into role of spliceosomal gene mutations in the pathogenesis of MDS, emphasizing on their clinical and prognostic significance. We also discuss emerging studies delineating the functional consequences of these mutations and pointing towards the emergence of a new leukemogenic pathway involving spliceosomal dysfunction.
Congenital Dyserythropoietic Anemia Type III and Primary Hemochromatosis; Coexistence of Mutations in KIF23 and HFE
Congenital dyserythropoietic anemia type III (CDA III) can be caused by mutation in KIF23. CDA III differs from CDA I and II in the sense that secondary hemochromatosis has not been reported. However, we have observed elevated serum ferritin in a CDA III family.
