Objective: To confirm the mutation of ALAS2 gene is the cause of sideroblastic anemia in a family.
Methods: Polymerase chain reaction (PCR) was used to amplify the microsatellite DXS 991, DXS 1199 in the chromosome Xp11.22 linked gene ALAS2 and haplotype analysis was performed in a kindred with 2 patients and 7 normal members. All cDNA encoded regions in the ALAS2 gene of the patients and their normal siblings were cloned, sequenced and compared.
Result: Both brother patients had the same allele of ALAS2 and their normal siblings did not. The mutation in the patients' ALAS2 gene was exon 5 A523G, causing threonine to alanine; and exon 3 T372C, leucine to proline. The latter located in the splicing region, its significance is not clear.
Conclusion: The pathogenesis of this kindred of X-linked sideroblastic anemia (XLSA) involved a novel mutation in ALAS2 exon 5.