Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

ConclusionIn view of the results obtained in this study, a clear relationship between genotype and phenotype cannot be established; clinical variability or severity of anemia may be influenced by allelic variants in other genes or transcription factors and environmental conditions. The different types of anemia are distinguished by characteristic hematological parameters and cellular morphology. The genetic study allows a more precise diagnosis. We report four cases with sideroblastic anemia with mutations in the 5‐aminolevulinate synthase (ALAS2) gene. The in silico analysis of mutations and the in vitro study to assess functional consequences of the two novel mutations, leads to suggest that novel ALAS2 mutations are responsible of the disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research