This work describes the identification of two subjects with young-age iron overload carrying
new causative mutations in transferrin receptor-2 gene. One was compound heterozygous …

Highlights•Tet2 knockdown mice exhibit mild anemia and iron overload.•TET2 affects
expression of genes related to iron/heme metabolism in erythroblasts.•TET2 regulates the …

To the Editor: A 2-y-old boy presented with pallor at the age of 1 y, without epistaxis,
dermatorrhagia or black stools. His parents are cousins. Complete blood count at the local …

Inherited disorders of iron metabolism : Current Opinion in Pediatrics Inherited disorders of iron
metabolism : Current Opinion in Pediatrics Log in or Register Subscribe to journalSubscribe Get …

BACKGROUND: Multicellular organisms regulate the uptake of calories, trace elements, and
other nutrients by complex feedback mechanisms. In the case of iron, the body senses …

Erythroid cells consume the vast majority (70-80%) of body iron for synthesis of heme, the
oxygen-binding cofactor of hemoglobin (Hb). Under physiological conditions, plasma iron is …

Abstract Matriptase‐2 (Tmprss6), a type II transmembrane serine protease, has an essential
role in iron homoeostasis as a hepcidin regulator. Recently, patients with TMPRSS6 …

Demir, oksijenin taşınması, DNA sentezi ve hücre çoğalması gibi çeşitli biyolojik
reaksiyonlar için vazgeçilmez olduğundan, yaşam için zorunludur. Demir metabolizması ve …

The most frequent genotype associated with Hereditary hemochromatosis is the
homozygosity for C282Y, a common HFE mutation. However, other mutations in HFE …

The article presents information on congenital dyserythropoietic anaemias (CDAs), a genetic
disorder of red cell production which is characterized by ineffective erythropoiesis and …