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Article

The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient.

European journal of haematology - 1 Oct 2009

Maciag Monika, Adamowicz-Salach Anna, Siwicka Alicja, Spychalska Justyna, Burzynska Beata

Abstract excerpt

Alpha-thalassaemia is a very rare disease in Northern Europe in contrast to hereditary spherocytosis that is associated with red blood cell membrane defects. We report here alpha-thalassaemia case who was also found to bear the erythrocyte membrane protein 4.2 gene mutations. mRNA relative quantification of red cell membrane protein genes in a Polish patient with alpha-thalassaemia trait indicated EPB42 as the...

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Identifiers

PMID: 19508687
DOI: 10.1111/j.1600-0609.2009.01289.x
PMCID: PMC2776934

Genes

EPB42

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient.PMID 19508687Read ↗

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