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Medicine

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Hematology

Question
1 out of 7
 

True about porphyria is? (NEET 2013)



A AD
B AR

C X link recessive
D Sporadic

Ans. A

AD

Prophyria

Disorders of Haem Metabolism – The Porphyrias

1. The porphyrias are rare disorders of the haem biosynthetic pathway.

2. Are due to partial enzyme deficiencies with a dominant mode of inheritance.

3. They are categorized as either hepatic or erythropoietic, depending on whether the major site of excess porphyrin production is in the liver or the red cell.

4. The porphyrias are characterized by a low penetrance in the order of 25%.