Disorders of haem biosynthesis

Charles Marques Lourenço, Karl E. Anderson

Research output: Chapter in Book/Report/Conference proceedingChapter


Features of X-Linked sideroblastic anaemia (XLSA) due to loss of function mutations of ALAS2 include childhood-or adult-onset anaemia, ineffective erythropoiesis with formation of ring sideroblasts, iron accumulation and pyridoxine responsiveness. Porphyrias are due to altered activity of enzymes of this pathway and cause striking accumulations of pathway intermediates and their oxidised products. Erythropoietic porphyrias usually present in childhood and hepatic porphyrias during adult life. Of the three most common porphyrias, porphyria cutanea tarda (PCT) presents with chronic blistering photosensitiviry, acute intermittent porphyria (AIP) presents with acute neurovisceral symptoms that can be exacerbated by certain drugs, hormones and nutritional changes, and erythropoietic protoporphyria (EPP) with acute, nonblistering photosensitity. All porphyrias are inherited, with the exception of PCT, which is mostly due to an acquired enzyme deficiency in the liver.

Original languageEnglish (US)
Title of host publicationInborn Metabolic Diseases
Subtitle of host publicationDiagnosis and Treatment
PublisherSpringer Berlin Heidelberg
Number of pages15
ISBN (Electronic)9783662631232
ISBN (Print)9783662631225
StatePublished - Jun 24 2022
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology


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