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Report for Clinical Trial NCT00723567

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes

The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.

NCT00723567 Hereditary Elliptocytosis (HE) Hereditary Pyropoikilocytosis (HPP)
MeSH: Elliptocytosis, Hereditary
HPO: Elliptocytosis


Primary Outcomes

Measure: Identify a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP

Time: After sample is obtained

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 R34P

These mutations were also present in his brother and daughter who have HE, while another son, who had Arg34Pro, but not LELY has repeatedly confirmed normal morphology. --- Arg34Pro ---



HPO Nodes


HPO:
Elliptocytosis
Genes 16
SPTA1 AMMECR1 GATA1 SPTA1 ACSL4 SPTA1 EPB41 KCNE5 GYPC TRNT1 AMMECR1 EPB41 AMMECR1 NHLRC2 SPTB SLC4A1