Bhakuni, Teena and Singhal, Rashi and Annarapu, Gowtham K. and Sharma, Amit and Mahapatra, Manoranjan and Saxena, Renu and Guchhait, Prasenjit (2019) Unique case of autoantibody mediated inactivation of ADAMTS13 in an Indian TTP patient. Blood Cells, Molecules, and Diseases, 77. pp. 29-33. ISSN 10799796

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Abstract

A young Indian female visited hospital as a suspected case of thrombotic thrombocytopenic purpura (TTP) withrelapsed thrombotic complications with low platelet counts, infarct in middle cerebral artery and thrombi inmicrovessels. Wefirst confirmed the deficiency of ADAMTS13 metalloprotease in this patient showing impropercleavage of vWF multimers by her plasma unlike her parents and brother. Although patient had very lessADAMTS13 antigen in plasma, but it did not appear to be the cause of deficiency of the enzyme, because herfather had similarly low antigen level and he never had prothrombotic complications. While investigating thegenetic change inADAMTS13, we observed four homozygous-SNPs (g.420T > C, g.1342C > G, g.1716G > Aand g.2280T > C) in exon 5, 12, 15 and 19 respectively in patient and her father unlike the heterozygous form ofsame SNPs in mother and brother. Further to investigate the cause of ADAMTS13 deficiency, we observed anelevated level of antibody against ADAMTS13 in patient unlike her father and other family members. Our studytherefore provides the molecular approach of diagnosis of TTP in this patient and also highlights the use of suchtechniques in India. More importantly, study provides the clue of alternate treatment such as im-munosuppressant therapy to this patient.

Item Type:	Article
Subjects:	Biomedical Science
Depositing User:	RCB Library
Date Deposited:	14 Mar 2023 10:11
Last Modified:	14 Mar 2023 10:11
URI:	http://rcb.sciencecentral.in/id/eprint/287

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