Azacitidine adverse effects in patients with myelodysplastic syndromes.

Azacitidine is now considered one of the standard-of-care agents for patients with high-risk myelodysplastic syndromes who are not candidates for high-dose chemotherapy. Considering the mechanism of action of the agent, it is critical to maintain adequate dose intensities for prolonged periods of time in order for treatment to be effective. Therefore, aggressive prevention as well as treatment of side effects is critical. The drug mainly causes hematological toxicity that is managed with growth factor support, blood transfusions, and dose and schedule adjustment. Nonhematological side effects are mainly gastrointestinal and cutaneous in nature, and can be easily managed with symptomatic treatment and correct administration techniques.

Hereditary spherocytosis associated with mutations in HFE gene.

We report on a Spanish family in which three members of different generations were diagnosed with hereditary spherocytosis (HS). Additionally, one of them II-I (44-years-old), presented iron overload with hepatic deposit and needed treatment with periodic phlebotomies. The rest of the family members presented normal analytical values in iron metabolism. To investigate the presence of H63D and C282Y mutations in the HFE gene, patient II-I was found to be compound heterozygous and was the only family member presenting HS and this genetic condition in HFE. We propose a synergistic effect of HS and mutations in HFE as the cause of the iron deposits.