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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
Author(s) -
Maciag Monika,
AdamowiczSalach Anna,
Siwicka Alicja,
Spychalska Justyna,
Burzynska Beata
Publication year - 2009
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2009.01289.x
Subject(s) - hereditary spherocytosis , gene , biology , mutation , genetics , microbiology and biotechnology , intron , population , medicine , environmental health
α‐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 α‐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 α‐thalassaemia trait indicated EPB42 as the gene that could also be involved in anaemia pathogenesis. Sequencing revealed the presence of two novel mutations in the protein 4.2 gene: a G1701A genetic change that predicts an alanine to threonine at position 567 of the protein (A567T) and a T→A substitution that is located at position +6 of the donor splice site of intron 2 (IVS2nt+6T>A). This is the sixth variant of the erythrocyte membrane protein 4.2 gene mutations identified outside the Japanese population.