Anemia, Sideroblastic, X-Linked malady
Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Metabolic diseases, Bone diseases categories
Aliases & Descriptions for Anemia, Sideroblastic, X-Linked:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Immune diseases, Blood diseases, Bone diseases
ICD10: 26 25
Characteristics (Orphanet epidemiological data):48
x-linked sideroblastic anemia:
Inheritance: X-linked recessive; Age of onset: All ages
NIH Rare Diseases:42 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. people with x-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. this disorder also leads to an abnormal accumulation of iron in red blood cells. the iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. these abnormal cells give the condition its name. the signs and symptoms of x-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. they range from mild to severe and most often appear in young adulthood. common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. x-linked sideroblastic anemia is caused by mutation in the alas2 gene. in rare cases, mutations are found in both the hfe gene and the alas2 gene, resulting in a more severe form of x-linked sideroblastic anemia. x-linked sideroblastic anemia is inherited in an x-linked recessive pattern. last updated: 3/11/2013
MalaCards based summary: Anemia, Sideroblastic, X-Linked, also known as x-linked sideroblastic anemia, is related to sideroblastic anemia and x-linked sideroblastic anemia with ataxia, and has symptoms including anemia, abnormality of the cardiovascular system and abnormality of the spleen. An important gene associated with Anemia, Sideroblastic, X-Linked is ALAS2 (aminolevulinate, delta-, synthase 2). The drugs ferric ammonium citrate and ferric ammonium citrate,green have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen.
MedlinePlus:32 Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. it contains immature cells, called stem cells. the stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. if you have a bone marrow disease, there are problems with the stem cells or how they develop. leukemia is a cancer in which the bone marrow produces abnormal white blood cells. with aplastic anemia, the bone marrow doesn't make red blood cells. other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells. other causes of bone marrow disorders include your genetic makeup and environmental factors. symptoms of bone marrow diseases vary. treatments depend on the disorder and how severe it is. they might involve medicines, blood transfusions or a bone marrow transplant.
Genetics Home Reference:21 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name.
OMIM:46 The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and... (300751) more...
Symptoms by clinical synopsis from OMIM:300751
Clinical features from OMIM:300751
Symptoms:48 (show all 10)
HPO human phenotypes related to Anemia, Sideroblastic, X-Linked:(show all 11)
MalaCards organs/tissues related to Anemia, Sideroblastic, X-Linked:31
Bone, Bone marrow, Spleen, Liver, Skin, Heart, Lung
UniProtKB/Swiss-Prot genetic disease variations for Anemia, Sideroblastic, X-Linked:63 (show all 25)
Clinvar genetic disease variations for Anemia, Sideroblastic, X-Linked:5 (show all 13)
Search GEO for disease gene expression data for Anemia, Sideroblastic, X-Linked.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet