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Article

A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.

Annals of hematology - 1 Aug 2008

Meyer Sara C, Jeddi Ramzi, Meddeb Balkis, Gouider Emna, Lämmle Bernhard, Kremer Hovinga Johanna A

Abstract excerpt

Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare disorder characterized by occlusive microvascular thrombosis, consumptive thrombocytopenia, and microangiopathic hemolytic anemia. Homozygous or compound heterozygous mutations in the ADAMTS13 gene result in a congenital severe ADAMTS...

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Source

Identifiers

PMID: 18443791
DOI: 10.1007/s00277-008-0496-6

Genes

ADAMTS13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18443791-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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