Abstract
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.
Highlights
Thalassaemia and hereditary spherocytosis (HS) are the most common inherited haemolytic anaemias, in general
We report the 3.7-kb a-thalassaemia-causing deletion, )a3.7 ⁄ )a3.7 in a Polish patient who was found to bear two novel protein 4.2 gene mutations discovered in the form of compound heterozygosity
The G1701A mutation is located in exon 10 and predicts an alanine to threonine change at position 567 (A567T)
Summary
Thalassaemia and hereditary spherocytosis (HS) are the most common inherited haemolytic anaemias, in general. Relative mRNA quantification was carried out for the red blood cell membrane protein genes at the same time. The patient displayed increased transcript levels of the genes for ankyrin, band 3 and spectrin a, and an approximately 45% decrease in the relative mRNA level of the gene encoding the protein 4.2 (EPB42) in comparison with the control group (Table 2).
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