MOLECULAR STUDY IRON REFRACTORY IRON DEFICIENCY ANEMIA, IRIDA, (TMPRSS6 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4256

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic iron homeostasis in humans.
Links:
OMIM Entry - # 206200 - IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA
OMIM Entry - - 609862 - TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6

   Find the record of the test by clicking here