{Reference Type}: Journal Article
{Title}: A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.
{Author}: Huang J;Ge M;Shao Y;Wang M;Jin P;Huo J;Li X;Zhang J;Nie N;Zheng Y;
{Journal}: BMC Med Genomics
{Volume}: 14
{Issue}: 1
{Year}: Apr 2021 15
{Factor}: 3.622
{DOI}: 10.1186/s12920-021-00950-x
{Abstract}: 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.<BR>A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations.<BR>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.<BR>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.