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Article

Biochemical and genetic defects underlying human congenital hypotransferrinemia.

The hematology journal : the official journal of the European Haematology Association - 1 Jan 2000

Goldwurm S, Casati C, Venturi N, Strada S, Santambrogio P, Indraccolo S, Arosio P, Cazzola M, Piperno A, Masera G, Biondi A

Abstract excerpt

INTRODUCTION: Human congenital hypotransferrinemia is a rare disorder characterized by the virtual absence of transferrin in the serum. No information on the causes of the disease is known. MATERIALS AND METHODS: Here we describe the identification of a new case, its treatment and the biochemical and genetic defects underlying the disorder. RESULTS: At diagnosis the patient had serum Tf levels equal to about 1%...

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PMID: 11920219
DOI: 10.1038/sj.thj.6200063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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