Albertine Donker

X-linked Sideroblastic Anemia in the Netherlands 211 6 Genotype Treatment characteristics Remarks Bone marrow ALAS2 mutation 2 Pyridoxine Chelation/ phlebotomy no ring sideroblasts p.Arg452His 11 yes EPO phlebotomy Bone marrow biopsy: MDS type RCMD with iron loaded macrophages nd nd nd nd Hereditary primary sidero-achrestic anemia 9 nd p.Arg452His 11* yes no Intention tremor, no ataxia, defect in ABCB7 gene excluded ring sideroblasts p.Arg452His 11* yes no 7 At age 32 years; 8 Results of 1 year treatment with pyridoxine (200 mg per day) and phlebotomy every 4-6 weeks. EPO was stopped after diagnosis at age 30 years; 9 Patient previously reported in thesis of Dr. Ploem 20 ; 10 Low compliance; MDS type RCMD: Myelodysplastic syndrome type Refractory Cytopenia with Multilineage Dysplasia; 11 Probands investigated by haplotype analysis, in subjects indicated by 11* this analysis suggests a common ancestor Abbreviations: nd denotes not determined or data not available; TSAT, transferrin saturation; NASH: non alcoholic steato-hepatitis; EPO, erythropoietin