Inherited Sideroblastic Anaemia
A group of conditions caused by changes in genes such as ALAS2 and ABCB7 (X-linked), SLC25A38, GLRX5, PUS1, YARS2 and TRNT1 (recessive) and HSPA9 (dominant); some forms also affect the muscles, nervous system or immune system.
Mit változtat a diagnózis
The X-linked ALAS2 form often responds to vitamin B6 (pyridoxine), and a diagnosis guides iron-overload monitoring and distinguishes these conditions from acquired myelodysplastic syndrome.
Más néven
constitutional sideroblastic anaemia; constitutional sideroblastic anemia
13 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- anemia, sideroblastic, 5
- autosomal dominant sideroblastic anemia
- autosomal recessive sideroblastic anemia
- congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- myopathy, lactic acidosis, and sideroblastic anemia
- myopathy, lactic acidosis, and sideroblastic anemia 1
- myopathy, lactic acidosis, and sideroblastic anemia 2
- myopathy, lactic acidosis, and sideroblastic anemia 3
- severe congenital hypochromic anemia with ringed sideroblasts
- sideroblastic anemia 2
- sideroblastic anemia 3
- X-linked sideroblastic anemia 1
- X-linked sideroblastic anemia with ataxia
