A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia
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Dear Editor, Sideroblastic anemia is a heterogeneous disorder that is charac- terized by increased serum iron and ferritin levels, high number of hypochromic red blood cells (RBCs), and ineffective erythro- poiesis with ringed sideroblasts in the bone marrow (BM) [1]. There are two forms of sideroblastic anemia: inherited and ac- quired. Acquired sideroblastic anemia usually develops because of alcohol consumption, toxin exposure, substance abuse, and myelodysplastic syndrome-refractory anemia with ring sidero- blasts (MDS-RARS). Inherited sideroblastic anemia has a het- erogeneous inheritance pattern including X-linked, autosomal, and mitochondrial entities. X-linked sideroblastic anemia (XLSA) is the most common type, constituting about 40% of inherited sideroblastic anemia [2]. Most cases of XLSA result from defi- ciency of delta-aminolevulinate synthase 2 (ALAS2), an ery- throid-specific enzyme involved in the heme biosynthetic path- way. To date, more than 60 different mutations in the ALAS2 gene on the X chromosome of XLSA patients have been de- scribed [3]. Although several reports on inherited sideroblastic anemia in Korea have been published [4-6], the underlying ge- netic change, a well-known point mutation, was confirmed only in one case [4]. Since the morphologic findings of inherited sid- eroblastic anemia are usually similar to those of neoplastic MDS-RARS, genetic analyses are useful in identifying inherited sid- eroblastic anemia. Here, we report a novel missense mutation of the ALAS2 gene in a young male patient presenting with severe sideroblastic anemia.
Abstract
Dear Editor, Sideroblastic anemia is a heterogeneous disorder that is charac- terized by increased serum iron and ferritin levels, high number of hypochromic red blood cells (RBCs), and ineffective erythro- poiesis with ringed sideroblasts in the bone marrow (BM) [1]. There are two forms of sideroblastic anemia: inherited and ac- quired. Acquired sideroblastic anemia usually develops because of alcohol consumption, toxin exposure, substance abuse, and myelodysplastic syndrome-refractory anemia with ring sidero- blasts (MDS-RARS). Inherited sideroblastic anemia has a het- erogeneous inheritance pattern including X-linked, autosomal, and mitochondrial entities. X-linked sideroblastic anemia (XLSA) is the most common type, constituting about 40% of inherited sideroblastic anemia [2]. Most cases of XLSA result from defi- ciency of delta-aminolevulinate synthase 2 (ALAS2), an ery- throid-specific enzyme involved in the heme biosynthetic path- way. To date, more than 60 different mutations in the ALAS2 gene on the X chromosome of XLSA patients have been de- scribed [3]. Although several reports on inherited sideroblastic anemia in Korea have been published [4-6], the underlying ge- netic change, a well-known point mutation, was confirmed only in one case [4]. Since the morphologic findings of inherited sid- eroblastic anemia are usually similar to those of neoplastic MDS-RARS, genetic analyses are useful in identifying inherited sid- eroblastic anemia. Here, we report a novel missense mutation of the ALAS2 gene in a young male patient presenting with severe sideroblastic anemia.
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