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Article

Molecular characterization of a case of atransferrinemia

15 Dec 2000

Abstract excerpt

Hereditary atransferrinemia is a rare but instructive disorder that has previously been reported in only 8 patients in 6 families. It is characterized by microcytic anemia and by iron loading, and can be treated effectively by plasma infusions. We now report the first case known in the United States. We determined the sequences flanking the exons of the human transferrin gene and sequenced all of the exons and...

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Identifiers

PMID: 11110675
DOI: 10.1182/blood.v96.13.4071

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