Questions and Answers
What is the primary genetic cause of Iron refractory iron deficiency anaemia (IRIDA)?
What is the consequence of mutations in the matriptase 2 gene in relation to hepcidin?
In the diagnosis of hypochromic microcytic anaemia, when is bone marrow examination considered essential?
What is the typical serum iron level associated with Iron refractory iron deficiency anaemia?
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Which of the following methods can confirm the diagnosis of IRIDA?
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Study Notes
Iron Refractory Iron Deficiency Anaemia (IRIDA)
- Definition: Rare autosomal recessive condition characterized by hypochromic microcytic anaemia.
- Genetic Mutations: Caused by inherited mutations in the matriptase 2 gene, which leads to uninhibited hepcidin secretion.
- DMT-1 Mutations: Even rarer cases involve mutations in the DMT-1 gene, further contributing to iron deficiency.
- Serum Iron Levels: Typically low, with reported levels at 5.5×10^12/L.
- Diagnosis Confirmation: DNA studies are effective and used to confirm the diagnosis of IRIDA.
- Bone Marrow Examination: Essential for diagnosing sideroblastic anaemia but usually unnecessary for other forms of hypochromic anaemias.
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Description
This quiz covers the rare genetic condition known as Iron Refractory Iron Deficiency Anaemia (IRIDA). It focuses on its genetic basis, including mutations in matriptase 2 and DMT-1, as well as diagnostic methods such as blood tests and bone marrow examination. Test your knowledge on this unique form of hypochromic microcytic anaemia and its implications.
