Treatment with deferiprone for iron overload alleviates bone marrow failure in a Fanconi anemia patient.

Fanconi anemia (FA) is a rare inherited disorder characterized by congenital abnormalities, progressive bone marrow failure and cancer susceptibility. There are no reports in the literature about a specific therapy effective in treating the progressive bone marrow failure of FA except for hematopoietic stem cell transplantation (HSCT). A FA patient started to receive deferiprone (L1) therapy due to iron overload.

Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis.

Missense, nonsense, and frameshift mutations in the human anion exchanger 1 have been associated with inherited distal renal tubular acidosis and hereditary spherocytosis. These two disorders, however, are almost always mutually exclusive. We have found an important and unusual exception: a novel combination of heterozygous E522K and G701D mutations in the anion exchanger 1 manifested as complete distal renal tubular acidosis and severe hereditary spherocytosis in an affected patient.