THE AIM of the study is a genetic analysis of hereditary chronic nonspherocytic anaemia in a case, caused by mutation in the glucose-6-phosphate dehydrogenase gene.
Materials and methods: The activity of G6PD enzyme was established. PCR method and DNA sequencing were implemented for molecular studies. Bioinformatic methods were used to check the effect of the mutation on the enzyme structure.
Results: Direct sequencing of g6pd gene revealed the presence of 1155 C > G mutation which results in cysteine to tryptophan substitution at position 385. Bioinformatic analysis established that this mutation may be responsible for protein destabilization.
Conclusions: 1. G6PD deficiency should be considered in patients with haemolytic anaemia of unknown etiology. 2. Molecular tests are necessary, especially in cases of suspected mutation carriers in G6PD gene.