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Erythrocyte soluble proteome analysis in hemolytic anaemia patients

ABSTRACT: We investigated the RBCs of a hemolytic anemia patient using quantitative proteomics. We used stable isotope dimethyl labeling to accurately quantify the RBC proteins. As controls, 1) samples of four healthy subjects were taken to account for normal variation in healthy individuals, and 2) samples of two non-spherocytic hemolytic anemia patients were taken to account for differences in protein levels due to elevated reticulocyte content. We used a combination of strong cation exchange (SCX) chromatography with nanoLC-MS/MS, enabling quantification of RBC proteins.

INSTRUMENT(S): LTQ Orbitrap

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Erythrocyte, Blood

SUBMITTER: Benjamin Barasa

LAB HEAD: Albert J R Heck

PROVIDER: PXD001837 | Pride | 2016-09-27

REPOSITORIES: Pride

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Proteomics reveals reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients.

Barasa Benjamin A BA van Oirschot Brigitte A BA Bianchi Paola P van Solinge Wouter W WW Heck Albert J R AJ van Wijk Richard R Slijper Monique M

Proteomics. Clinical applications 20160801 8

<h4>Purpose</h4>To date, it remains a challenge to correctly and timely diagnose red blood cell (RBC) enzymopathies that result in hereditary nonspherocytic hemolytic anemia (HNSHA), the third most common of which is pyrimidine 5'-nucleotidase (P5N) deficiency with just over 100 cases recognized and confirmed worldwide.<h4>Experimental design</h4>We have investigated the RBC proteome of a patient with P5N deficiency due to a homozygous frameshift mutation in the NT5C3A gene. Protein expression l ...[more]

PMID: 27381654

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