In congenital iron-loading anemias, such as [beta]-thalassemia (major and intermedia) and congenital dyserythropoietic anemia I and II, but also in acquired forms such as myelodys-plastic syndrome types RA (refractory anemia) and RARS (RA with ringed sideroblasts), the diseased erythron dysregulates iron homeostasis by inhibiting hepcidin synthesis, even in the presence of iron overload (134-140).
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.
Hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS) (41), also called congenital dyserythropoietic anemia type II (42, 43), is a rare autosomal recessive disorder caused by membrane abnormality, with >300 known patients, and is a multifactorial disease.
Congenital dyserythropoietic anemia type II patients suffer from a long-life anemia, hepatosplenomegaly, liver hemosiderosis, and cirrhosis.
Studies on linkage analysis and allele segregation showed that there was no linkage between congenital dyserythropoietic anemia type II phenotype and the chromosomal regions containing the candidate genes that code for GlcNAc transferase II and a-mannosidase II.
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II).