Genetic basis of unexplained erythrocytosis in Indian patients.

Nabhajit MallikPrashant SharmaJasbir Kaur HiraSanjeev ChhabraSreejesh SreedharanunniNarender KumarShano NaseemMan Updesh Singh SachdevaJasmina AhluwaliaPankaj MalhotraNeelam VarmaSubhash VarmaReena Das

Published in: European journal of haematology (2019)

A gene-by-gene Sanger sequencing approach could determine a genetic basis for erythrocytosis in 11 of the 15 (73%) Indian families, with homozygous VHL:c.598C > T (p.Arg200Trp) being the commonest pathogenic variant. This first study from the Indian subcontinent provides a rationale for analyzing this variant in patients with suspected congenital erythrocytosis from this region. Rare first occurrences of Hb McKees Rocks and Hb Rainier in Indians are also being reported.

Keyphrases

genome wide
copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
clinical trial
single cell
genome wide identification
gene expression
patient reported
genome wide analysis