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Spontaneous hemolytic crises

MedGen UID:
870730
Concept ID:
C4025184
Disease or Syndrome
HPO: HP:0005525

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpontaneous hemolytic crises

Conditions with this feature

Hemolytic anemia due to glucophosphate isomerase deficiency
MedGen UID:
462080
Concept ID:
C3150730
Disease or Syndrome
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.\n\nHemolytic 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.\n\nA small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).

Professional guidelines

PubMed

Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Recent clinical studies

Etiology

Rajab KE, Issa AA, Mohammed AM, Ajami AA
Int J Gynaecol Obstet 2006 May;93(2):171-5. Epub 2006 Mar 6 doi: 10.1016/j.ijgo.2006.02.007. PMID: 16563397
Walshe JM
Q J Med 1989 Mar;70(263):253-63. PMID: 2602537

Diagnosis

Ahmed S, Shahid RK, Russo LA
Best Pract Res Clin Gastroenterol 2005 Apr;19(2):297-310. doi: 10.1016/j.bpg.2004.11.007. PMID: 15833695
Walshe JM
Q J Med 1989 Mar;70(263):253-63. PMID: 2602537
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Therapy

Khot R, Aher A
J Assoc Physicians India 2012 Nov;60:62-3. PMID: 23767208
Rajab KE, Issa AA, Mohammed AM, Ajami AA
Int J Gynaecol Obstet 2006 May;93(2):171-5. Epub 2006 Mar 6 doi: 10.1016/j.ijgo.2006.02.007. PMID: 16563397
Walshe JM
Q J Med 1989 Mar;70(263):253-63. PMID: 2602537
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Prognosis

Walshe JM
Q J Med 1989 Mar;70(263):253-63. PMID: 2602537
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394
Zimmerman D, Bell WR
Am J Med 1980 Feb;68(2):275-9. doi: 10.1016/0002-9343(80)90366-6. PMID: 7355897

Clinical prediction guides

Rajab KE, Issa AA, Mohammed AM, Ajami AA
Int J Gynaecol Obstet 2006 May;93(2):171-5. Epub 2006 Mar 6 doi: 10.1016/j.ijgo.2006.02.007. PMID: 16563397
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394
Zimmerman D, Bell WR
Am J Med 1980 Feb;68(2):275-9. doi: 10.1016/0002-9343(80)90366-6. PMID: 7355897

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