X-linked sideroblastic anemia

General Information (adopted from Orphanet):

Synonyms, Signs: ANEMIA, HEREDITARY SIDEROBLASTIC
HEREDITARY IRON-LOADING ANEMIA
ANEMIA, HYPOCHROMIC
XLSA
ANH1
Number of Symptoms 17
OrphanetNr: 75563
OMIM Id: 300751
ICD-10: D64.0
UMLs:
MeSH: C536761
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 200 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional sideroblastic anemia
 -Rare genetic disease
 -Rare hematologic disease
Disorder of porphyrin and haem metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
2
 (HPO:0006568) Increased hepatic glycogen content Occasional [Orphanet] 34 / 7739
3
 (HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
4
 (HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
5
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [Orphanet] 73 / 7739
6
 (HPO:0004840) Hypochromic microcytic anemia 15 / 7739
7
 (HPO:0004447) Poikilocytosis Very frequent [Orphanet] 16 / 7739
8
 (HPO:0001972) Macrocytic anemia 26 / 7739
9
 (HPO:0001877) Abnormality of erythrocytes Very frequent [Orphanet] 18 / 7739
10
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
11
 (HPO:0001924) Sideroblastic anemia 12 / 7739
12
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
13
 (OMIM) Low hemoglobin 1 / 7739
14
 (HPO:0003828) Variable expressivity 130 / 7739
15
 (OMIM) Pathologic perinuclear mitochondrial iron deposits in erythrocyte precursors 1 / 7739
16
 (OMIM) Macrocytic anemia in manifesting females 1 / 7739
17
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late ...
Clinical Description OMIM X-linked sideroblastic anemia was first described by Cooley (1945), a Detroit pediatrician-hematologist who also first described thalassemia in a definitive way. He pointed out possible X-linkage in a family in which 19 males in 5 generations were affected, ...
Genotype-Phenotype Correlations OMIM In 18 unrelated XLSA hemizygotes, Cotter et al. (1999) found a significantly higher frequency of coinheritance of the hereditary hemochromatosis HFE mutant allele C282Y (613609.0001) than found in the normal population. One proband with the Y199H mutation (301300.0017) ...
Molecular genetics OMIM In a male with a pyridoxine-responsive form of X-linked sideroblastic anemia, Cotter et al. (1992) identified a causative mutation in the ALAS2 gene (301300.0001).

In affected members of the original family with X-linked sideroblastic anemia described ...