Genomic investigation of inherited thrombotic microangiopathy-aHUS and TTP

Title: Genomic investigation of inherited thrombotic microangiopathy-aHUS and TTP
Creator: Enjeti, Anoop K.; de Malmanche, Theo; Chapman, Kent; Ziolkowski, Andrew
Relation: International Journal of Laboratory Hematology Vol. 42, Issue S1, p. 33-40
Publisher Link: http://dx.doi.org/10.1111/ijlh.13201
Publisher: Wiley-Blackwell
Resource Type: journal article
Date: 2020
Description: Thrombotic microangiopathies (TMA) are a heterogeneous group of red cell fragmentation syndromes characterized by a tendency for thrombosis and pathognomonic red cell fragments in peripheral blood, which results in thrombosis in the microvasculature due to endothelial damage. Genomic investigations into inherited TMAs are of diagnostic, prognostic and therapeutic value. Here, we present two cases that capture the importance of performing genomic testing in rare disorders. Treatment options for these conditions, such as plasma exchange and monoclonal antibodies against complement factors, are intensive and expensive health care interventions. The results of genomic investigation into rare TMAs can better inform the clinicians and their patients of prognosis and suitable personalized treatment options.
Subject: aHUS; genomic; mutations; thrombotic microangiopathy; TTP
Identifier: http://hdl.handle.net/1959.13/1436344
Identifier: uon:39994
Identifier: ISSN:1751-5521
Language: eng
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