Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].

doi:10.1080/03630260903061184

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].

Hemoglobin - 1 Jan 2009

Zanella-Cleon Isabelle, Préhu Claude, Joly Philippe, Riou Jean, Becchi Michel, Wajcman Henri, Francina Alain

Abstract excerpt

Hemoglobinopathies are the most frequent genetic diseases in the world. Among them, the Hb S variant [beta6(A3)Glu-->Val], which, in the homozygous state, produces a severe disease known as sickle cell anemia with polymerization of Hb S inside red blood cells under hypoxic conditions. Additional mutations, in cis or in trans of the beta(S)-globin chain, may inhibit or enhance the polymerization process. We...

Topics

Anemia, Sickle Cell
Chromatography, Liquid
Female
Glutamic Acid
Hemoglobin, Sickle
Hemoglobins, Abnormal
Humans
Lysine
Mass Spectrometry
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Spectrometry, Mass, Electrospray Ionization

Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Threonine

Valine

beta-Globins

Source

Open in PubMed

Identifiers

PMID: 19657831
DOI: 10.1080/03630260903061184

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-19657831-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].PMID 19657831Read ↗

HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations.Semantic proximity Read ↗

Phenotype determination of hemoglobinopathies by mass spectrometry.Semantic proximity Read ↗

Mass spectrometry: a tool for enhanced detection of hemoglobin variants.Semantic proximity Read ↗

Advances in hemoglobinopathy detection and identification.Semantic proximity Read ↗

Optimization and Identification of Single Mutation in Hemoglobin Variants with 2,2,2 Trifluoroethanol Modified Digestion Method and Nano-LC Coupled MALDI MS/MS.Semantic proximity Read ↗

Analysis of functional aberration of some important beta hemoglobinopathies (hemoglobin C, D, E, and S) from nanostructures.Semantic proximity Read ↗

Protein characterization by LC-MS/MS may be required for the DNA identification of a fusion hemoglobin: the example of Hb P-Nilotic.Semantic proximity Read ↗

A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.Semantic proximity Read ↗

Hb Antalya [codons 3-5 (Leu-Thr-Pro-->Ser-Asp-Ser)]: a new unstable variant leading to chronic microcytic anemia and high Hb A2.Semantic proximity Read ↗

Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis.Semantic proximity Read ↗

β37Trp→Cys mutation leads to multiple new hemoglobin species in red cells.Semantic proximity Read ↗

Hemoglobin variant analysis of whole blood and dried blood spots by MS.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.