RED CELLS Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice
نویسندگان
چکیده
1Institut National de la Santé et de la Recherche Médicale (INSERM) Unité (U) 773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Paris; Université Paris 7 Denis Diderot; and Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France; 2Institut Pasteur, Unité de Génétique des Mammifères, Paris, France; Assistance Publique–Hôpitaux de Paris (AP-HP), Hôpital Bichat, 3Laboratoire d’hématologie and 4Laboratoire d’anatomo-pathologie, Paris, France; 5INSERM E0217 and Université V Segalen Bordeaux 2, Bordeaux, France
منابع مشابه
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.
Patients with deficiency in ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway, experience a painful type of skin photosensitivity called erythropoietic protoporphyria (EPP), which is caused by the excessive production of protoporphyrin IX (PPIX) by erythrocytes. Controversial results have been reported regarding hematologic status and iron status of patients with EPP. We t...
متن کاملIncreased plasma transferrin, altered body iron distribution and microcytic hypochromic anemia in ferrochelatase deficient mic
Patients with deficiency in ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway, present painful skin photosensitivity due to the excessive production of protoporphyrin IX (PPIX) by erythrocytes. Controversial results have been reported on both hematological and iron status of these patients with erythropoietic protoporphyria (EPP). We thoroughly explored these parameters in...
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Iron is essential for all cells but is toxic in excess, so iron absorption and distribution are tightly regulated. Serum iron is bound to transferrin and enters erythroid cells primarily via receptor-mediated endocytosis of the transferrin receptor (Tfr1). Tfr1 is essential for developing erythrocytes and reduced Tfr1 expression is associated with anemia. The transcription factors STAT5A/B are ...
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Iron deficiency anemia is one of the most common diseases worldwide. In the majority of cases, the presence of hypochromic microcytic anemia and biochemical evidence for depletion of body iron stores makes the diagnosis relatively straightforward. However, in several clinical conditions, classic biochemical indices such as serum iron, transferrin saturation, and ferritin may not be informative ...
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DMT1 mediates the pH-dependent uptake of Fe(2+) from the diet in duodenal enterocytes and in most other cells. It transfers iron from the endosomes to the cytosol following the uptake of the transferrin-transferrin receptor complex. DMT1 mutations are responsible for severe hypochromic microcytic anemia in rodents and in 2 human patients described recently. We report a compound heterozygote for...
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