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Hereditary sideroblastic anemia(SIDBA1)

MedGen UID:
65119
Concept ID:
C0221018
Disease or Syndrome
Synonyms: Anemia seX-linked hypochromic sideroblastic; ANEMIA, HYPOCHROMIC; ANEMIA, SIDEROBLASTIC, 1; ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET; ANEMIA, SIDEROBLASTIC, 1, PYRIDOXINE REFRACTORY; Congenital Sideroblastic Anemia; Erythroid 5-aminolevulinate synthase deficiency; Hereditary iron-loading anemia; SIDBA1; X chromosome-linked sideroblastic anemia; X-linked pyridoxine-refractory sideroblastic anemia; X-Linked Sideroblastic Anemia
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary sideroblastic anemia (62677000); Congenital sideroblastic anemia (62677000); Erythroid 5-aminolevulinate synthetase deficiency (62677000); X chromosome-linked sideroblastic anemia (62677000); X-linked sideroblastic anemia (62677000)
 
Gene (location): ALAS2 (Xp11.21)
OMIM®: 300751
Orphanet: ORPHA75563

Definition

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 erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism (Fleming, 2002). Genetic Heterogeneity of Sideroblastic Anemia See also SIDBA2 (205950), caused by mutation in the SLC25A38 gene (610819) on chromosome 3p22; SIDBA3 (616860), caused by mutation in the GLRX5 gene (609588) on chromosome 14q32; and SIDBA4 (182170), caused by mutation in the HSPA9 gene (600548) on chromosome 5q31. [from OMIM]

Additional description

From GHR
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.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.  https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia

Clinical features

Macrocytic anemia
MedGen UID:
1920
Concept ID:
C0002886
Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Refractory sideroblastic anemia
MedGen UID:
8067
Concept ID:
C0002896
Disease or Syndrome
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
Hypochromic microcytic anemia
MedGen UID:
124413
Concept ID:
C0271901
Disease or Syndrome
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary sideroblastic anemia
Follow this link to review classifications for Hereditary sideroblastic anemia in Orphanet.

Recent clinical studies

Etiology

Meo A, Ruggeri A, La Rosa MA, Zanghì L, Morabito N, Duca L
Hemoglobin 2006;30(1):131-7. doi: 10.1080/03630260500455615. PMID: 16540426
Furuyama K, Sassa S
Cell Mol Biol (Noisy-le-grand) 2002 Feb;48(1):5-10. PMID: 11929048
Aoki Y
J Clin Invest 1980 Jul;66(1):43-9. doi: 10.1172/JCI109833. PMID: 6249845Free PMC Article
Prasad AS, Tranchida L, Konno ET, Berman L, Albert S, Sing CF, Brewer GJ
J Clin Invest 1968 Jun;47(6):1415-24. doi: 10.1172/JCI105833. PMID: 4871209Free PMC Article

Diagnosis

Meo A, Ruggeri A, La Rosa MA, Zanghì L, Morabito N, Duca L
Hemoglobin 2006;30(1):131-7. doi: 10.1080/03630260500455615. PMID: 16540426
Fairbanks VF, Dickson ER, Thompson ME
Hosp Pract (Off Ed) 1991 Apr;26 Suppl 3:53-5. PMID: 2010494
Aoki Y
J Clin Invest 1980 Jul;66(1):43-9. doi: 10.1172/JCI109833. PMID: 6249845Free PMC Article

Therapy

Meo A, Ruggeri A, La Rosa MA, Zanghì L, Morabito N, Duca L
Hemoglobin 2006;30(1):131-7. doi: 10.1080/03630260500455615. PMID: 16540426
Fairbanks VF, Dickson ER, Thompson ME
Hosp Pract (Off Ed) 1991 Apr;26 Suppl 3:53-5. PMID: 2010494
Soslau G, Brodsky I
Am J Hematol 1989 Dec;32(4):298-304. PMID: 2816925

Prognosis

Meo A, Ruggeri A, La Rosa MA, Zanghì L, Morabito N, Duca L
Hemoglobin 2006;30(1):131-7. doi: 10.1080/03630260500455615. PMID: 16540426

Clinical prediction guides

Aoki Y
J Clin Invest 1980 Jul;66(1):43-9. doi: 10.1172/JCI109833. PMID: 6249845Free PMC Article

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