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X-linked sideroblastic anemia
1 OMIM reference -
1 associated gene
2 connected diseases
10 signs/symptoms
Disease Type of connection
Erythropoietic protoporphyria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Synonym(s):
- XLSA
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: C536761
Gene symbol UniProt reference OMIM reference
ALAS2 P22557301300
Very frequent
- Anaemia
- Red cell disorders
- Red cell structure / shape anomalies
- X-linked recessive inheritance

Occasional
- Insulin-independent / type 2 diabetes
- Irregular / in bands / reticular skin hyperpigmentation
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Storage liver disease
- Structural and functional anomalies of the spleen
- Structural anomalies of the cardio-circulatory system