Albertine Donker

X-linked Sideroblastic Anemia in the Netherlands 209 6 Genotype Treatment characteristics Remarks Bone marrow ALAS2 mutation 2 Pyridoxine Chelation/ phlebotomy nd p.Arg452His yes nd Blood transfusion per 3-6 months; Diabetes mellitus II; Myocardial infarction; Hypercholesterolemia ring sideroblasts +++ p.Arg452His yes phlebotomy nd p.Arg452His yes phlebotomy Heterozygosity for P.Cys282Tyr in HFE; death at age 71 because of hepatocellular carcinoma ring sideroblasts 30% p.Arg452His yes phlebotomy Homozygous for p.Cys282Tyr in HFE gene ring sideroblasts +++ p.Arg452His 11* yes chelation phlebotomy nd p.Arg452His yes no Nail clubbing nd p.Cys471Tyr yes nd nd p.Cys471Tyr yes phlebotomy ring sideroblasts 11% p.Arg452His 11* yes no nd p.Arg452His 11* yes no nd p.Arg452His 11* yes chelation phlebotomy Rheumatoid arthritis IgA deficiency