RESUMO
MDS with deletion 5q - a distinct subtype of myelodysplastic syndromes Abstract. Deletion of the long arm of chromosome 5 (del(5q)) is a recurrent anomaly in myelodysplastic syndromes associated with a distinct pathophysiology and specific treatment options. MDS with isolated del(5q) are associated with a favorable risk profile and can be treated with lenalidomide. MDS with isolated del(q) have to be distinguished from MDS with an anomaly on the long arm of chromosome 5 and more than one additional mutation turning these cases into high-risk forms of MDS.
Assuntos
Síndromes Mielodisplásicas , Talidomida , Deleção Cromossômica , Humanos , Lenalidomida/uso terapêutico , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/tratamento farmacológico , Síndromes Mielodisplásicas/genética , Talidomida/uso terapêuticoRESUMO
A new alpha-globin mutation causing persistent mild hypochromic microcytosis and erythrocytosis is described. Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)] is not detected at the protein level and leads to alpha(+)-thalassemia (thal).
