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Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency

MedGen UID:
462080
Concept ID:
C3150730
Disease or Syndrome
Synonyms: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): GPI (19q13.11)
OMIM®: 613470
Orphanet: ORPHA712

Definition

Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.Hemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.A small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).
[from GHR]

Clinical features

Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.
Sensory ataxia
MedGen UID:
66020
Concept ID:
C0240991
Sign or Symptom
Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.
Decreased glucosephosphate isomerase activity
MedGen UID:
488961
Concept ID:
C1291611
Disease or Syndrome
A decreased rate of glucose-6-phosphate isomerase activity.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cholecystitis
MedGen UID:
368404
Concept ID:
C1963083
Finding
The presence of inflammatory changes in the gallbladder.
Pigment gallstones
MedGen UID:
480495
Concept ID:
C3278865
Finding
Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.
Impaired neutrophil bactericidal activity
MedGen UID:
868687
Concept ID:
C4023090
Finding
A reduction in the ability of neutrophils to kill bacteria.
Spontaneous hemolytic crises
MedGen UID:
870730
Concept ID:
C4025184
Disease or Syndrome
Nonspherocytic hemolytic anemia
MedGen UID:
871250
Concept ID:
C4025735
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Follow this link to review classifications for Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency in Orphanet.

Recent clinical studies

Etiology

Warang P, Kedar P, Ghosh K, Colah RB
Int J Hematol 2012 Aug;96(2):263-7. Epub 2012 Jul 11 doi: 10.1007/s12185-012-1122-x. PMID: 22782259
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. PMID: 8813716
Xu W, Beutler E
J Clin Invest 1994 Dec;94(6):2326-9. doi: 10.1172/JCI117597. PMID: 7989588Free PMC Article
Rijksen G, Jansen G, Manaster J, Ezekiel E, Streichman S, Staal GE
Isr J Med Sci 1984 Jun;20(6):529-34. PMID: 6469574
Blume KG, Hryniuk W, Powars D, Trinidad F, West C, Beutler E
J Lab Clin Med 1972 Jun;79(6):942-9. PMID: 5025461

Diagnosis

Mojzikova R, Koralkova P, Holub D, Saxova Z, Pospisilova D, Prochazkova D, Dzubak P, Horvathova M, Divoky V
Blood Cells Mol Dis 2018 Mar;69:23-29. Epub 2017 Apr 14 doi: 10.1016/j.bcmd.2017.04.003. PMID: 28803808
Jamwal M, Aggarwal A, Das A, Maitra A, Sharma P, Krishnan S, Arora N, Bansal D, Das R
Clin Chim Acta 2017 May;468:81-84. Epub 2017 Feb 20 doi: 10.1016/j.cca.2017.02.012. PMID: 28223188
Warang P, Kedar P, Ghosh K, Colah RB
Int J Hematol 2012 Aug;96(2):263-7. Epub 2012 Jul 11 doi: 10.1007/s12185-012-1122-x. PMID: 22782259
Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
Ann Pharmacother 2010 Jul-Aug;44(7-8):1327-9. Epub 2010 Jun 1 doi: 10.1345/aph.1P030. PMID: 20516363
Hirono A, Forman L, Beutler E
Medicine (Baltimore) 1988 Mar;67(2):110-7. PMID: 3352512

Therapy

Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
Ann Pharmacother 2010 Jul-Aug;44(7-8):1327-9. Epub 2010 Jun 1 doi: 10.1345/aph.1P030. PMID: 20516363
Schröter W
Eur J Pediatr 1980 Oct;135(1):41-3. PMID: 7449787
Fielek S, Mohrenweiser HW
Clin Chem 1979 Mar;25(3):384-8. PMID: 162438
Paglia DE, Valentine WN
Am J Clin Pathol 1974 Dec;62(6):740-51. PMID: 4611197

Prognosis

Clarke JL, Vulliamy TJ, Roper D, Mesbah-Namin SA, Wild BJ, Walker JI, Will AM, Bolton-Maggs PH, Mason PJ, Layton DM
Blood Cells Mol Dis 2003 May-Jun;30(3):258-63. PMID: 12737943
Huppke P, Wünsch D, Pekrun A, Kind R, Winkler H, Schröter W, Lakomek M
Eur J Pediatr 1997 Aug;156(8):605-9. PMID: 9266190
Baronciani L, Zanella A, Bianchi P, Zappa M, Alfinito F, Iolascon A, Tannoia N, Beutler E, Sirchia G
Blood 1996 Sep 15;88(6):2306-10. PMID: 8822952
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. PMID: 8813716
Hutton JJ, Chilcote RR
J Pediatr 1974 Oct;85(4):494-7. PMID: 4443856

Clinical prediction guides

Mojzikova R, Koralkova P, Holub D, Saxova Z, Pospisilova D, Prochazkova D, Dzubak P, Horvathova M, Divoky V
Blood Cells Mol Dis 2018 Mar;69:23-29. Epub 2017 Apr 14 doi: 10.1016/j.bcmd.2017.04.003. PMID: 28803808
Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
Ann Pharmacother 2010 Jul-Aug;44(7-8):1327-9. Epub 2010 Jun 1 doi: 10.1345/aph.1P030. PMID: 20516363
Clarke JL, Vulliamy TJ, Roper D, Mesbah-Namin SA, Wild BJ, Walker JI, Will AM, Bolton-Maggs PH, Mason PJ, Layton DM
Blood Cells Mol Dis 2003 May-Jun;30(3):258-63. PMID: 12737943
Kugler W, Breme K, Laspe P, Muirhead H, Davies C, Winkler H, Schröter W, Lakomek M
Hum Genet 1998 Oct;103(4):450-4. PMID: 9856489
Hutton JJ, Chilcote RR
J Pediatr 1974 Oct;85(4):494-7. PMID: 4443856

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