Indexed on: 17 Apr '21Published on: 17 Apr '21Published in: BMC Medical Genomics
X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown. A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations. In the study, we identified a missense ALAS2 R204Q mutation in a hemizygous Chinese Han man and in his heterozygous daughter. The male proband presented clinical manifestations at 38 years old and had a good response to pyridoxine. XLSA, as a hereditary disease, can present clinical manifestations later in lives, for adult male patients with ringed sideroblasts and hypochromic anemia, it should be evaluated with gene analyses to exclude CSA.
Indexed on: 01 Oct '95
Published on: 01 Oct '95 in The Journal of clinical investigation