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Porphyrias, Haemochromatosis and Anemia


The research carried out by our group is focused on the study of rare diseases related to the metabolism of heme and iron. Our work group aims to detect and characterize the genetic variants found in patients with porphyria, hemochromatosis or anemia from a functional viewpoint. Apart from a transgenic mouse model of hemochromatosis, we have developed a knock-in mouse model of congenital porphyria to study aspects of this type of porphyria and the contribution of iron overload to its pathogenesis.

Genetic studies:

  1. The following genes are studied in cases of porphyria based on its clinical manifestations and on the results of the biochemical studies to determine the etiology of the disease: ALAS2, ALAD, HMBS, UROS, UROD, CPOX, PPOX and FECH.
  2. In cases of hemochromatosis and excess iron, the following gene panel is analyzed: HFE, HJV, HAMP, TFR2, SLC40A1, FTL, FTH and BMP6.
  3. In cases of congenital dyserythropoietic anemia, the following gene panel is analyzed: CDAN1, c15orf41, SEC23B, KIF23, KLF1 and GATA1.
  4. In cases of sideroblastic anemia, the following gene panel is analyzed: ALAS2, SLC25A38, ABCB7, GLRX5 and STEAP3.
  5. In cases of microcytic anemia, the following gene panel is analyzed: SLC11A2, TMPRSS6, CP and TF.

Mouse models are used to study the porphyric phenotype of transgenic animals with a partial deficiency in the UROD enzyme and the contribution of the deficiency of one or two alleles of the Hfe gene to this disease in double transgenic animals.