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Microcytic anemia with liver iron overload(AHMIO1)

MedGen UID:
812483
Concept ID:
C3806153
Disease or Syndrome
Synonym: Anemia, hypochromic microcytic, with iron overload 1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC11A2 (12q13.12)
 
Monarch Initiative: MONDO:0008787
OMIM®: 206100
Orphanet: ORPHA83642

Definition

Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), and slow growth.

In hypochromic microcytic anemia with iron overload, the iron that is not used by red blood cells accumulates in the liver, which can impair its function over time. The liver problems typically become apparent in adolescence or early adulthood. [from MedlinePlus Genetics]

Clinical features

From HPO
Elevated hepatic iron concentration
MedGen UID:
868497
Concept ID:
C4022891
Finding
An increased level of iron in liver tissues.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Erythroid hyperplasia
MedGen UID:
4536
Concept ID:
C0014800
Disease or Syndrome
Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Hypochromia
MedGen UID:
87187
Concept ID:
C0333912
Finding
A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.
Decreased mean corpuscular volume
MedGen UID:
1375398
Concept ID:
C0855790
Finding
A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
Increased circulating iron concentration
MedGen UID:
57739
Concept ID:
C0151900
Finding
The concentration of iron in the blood circulation is above the upper limit of normal.

Professional guidelines

PubMed

Iolascon A, De Falco L
Semin Hematol 2009 Oct;46(4):358-70. doi: 10.1053/j.seminhematol.2009.06.005. PMID: 19786204

Recent clinical studies

Etiology

Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Rollón N, Fernández-Jiménez MC, Moreno-Carralero MI, Murga-Fernández MJ, Morán-Jiménez MJ
Int J Hematol 2015 May;101(5):514-9. Epub 2014 Dec 30 doi: 10.1007/s12185-014-1723-7. PMID: 25547425

Diagnosis

Kharel Z, Kharel H, Phatak PD
Ann Hematol 2024 Jun;103(6):2173-2176. Epub 2024 Apr 19 doi: 10.1007/s00277-024-05743-7. PMID: 38637332
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Manckoundia P, Konaté A, Hacquin A, Nuss V, Mihai AM, Vovelle J, Dipanda M, Putot S, Barben J, Putot A
Clin Interv Aging 2020;15:1927-1938. Epub 2020 Oct 7 doi: 10.2147/CIA.S269379. PMID: 33116447Free PMC Article
Iolascon A, De Falco L
Semin Hematol 2009 Oct;46(4):358-70. doi: 10.1053/j.seminhematol.2009.06.005. PMID: 19786204
Tunaci M, Tunaci A, Engin G, Ozkorkmaz B, Dinçol G, Acunaş G, Acunaş B
Eur Radiol 1999;9(9):1804-9. doi: 10.1007/s003300050926. PMID: 10602954

Therapy

Kharel Z, Kharel H, Phatak PD
Ann Hematol 2024 Jun;103(6):2173-2176. Epub 2024 Apr 19 doi: 10.1007/s00277-024-05743-7. PMID: 38637332
Rollón N, Fernández-Jiménez MC, Moreno-Carralero MI, Murga-Fernández MJ, Morán-Jiménez MJ
Int J Hematol 2015 May;101(5):514-9. Epub 2014 Dec 30 doi: 10.1007/s12185-014-1723-7. PMID: 25547425
Lindner U, Schuppan D, Schleithoff L, Habeck JO, Grodde T, Kirchhof K, Stoelzel U
Horm Metab Res 2015 Apr;47(4):303-8. Epub 2014 Aug 4 doi: 10.1055/s-0034-1383650. PMID: 25089372
Iolascon A, De Falco L
Semin Hematol 2009 Oct;46(4):358-70. doi: 10.1053/j.seminhematol.2009.06.005. PMID: 19786204
Iolascon A, d'Apolito M, Servedio V, Cimmino F, Piga A, Camaschella C
Blood 2006 Jan 1;107(1):349-54. Epub 2005 Sep 13 doi: 10.1182/blood-2005-06-2477. PMID: 16160008

Prognosis

Kharel Z, Kharel H, Phatak PD
Ann Hematol 2024 Jun;103(6):2173-2176. Epub 2024 Apr 19 doi: 10.1007/s00277-024-05743-7. PMID: 38637332
Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT
Blood 2005 Feb 1;105(3):1337-42. Epub 2004 Sep 30 doi: 10.1182/blood-2004-07-2966. PMID: 15459009

Clinical prediction guides

Schmidt PJ, Andrews NC, Fleming MD
Blood 2010 Dec 16;116(25):5679-87. Epub 2010 Sep 13 doi: 10.1182/blood-2010-04-277954. PMID: 20837779Free PMC Article
Iolascon A, Camaschella C, Pospisilova D, Piscopo C, Tchernia G, Beaumont C
J Pediatr 2008 Jan;152(1):136-9. doi: 10.1016/j.jpeds.2007.08.041. PMID: 18154916
Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT
Blood 2005 Feb 1;105(3):1337-42. Epub 2004 Sep 30 doi: 10.1182/blood-2004-07-2966. PMID: 15459009

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