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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Nonspherocytic hemolytic anemia due to hexokinase deficiency


Other Names for this Disease

  • Hexokinase deficiency hemolytic anemia
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Symptoms

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What are the signs and symptoms of nonspherocytic hemolytic anemia due to hexokinase deficiency?

Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA).[1] The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited cause of hemolytic anemia, and may include jaundice, fatigue, lethargy, and pale skin.[2][3]. However, the anemia associated with hexokinase deficiency is generally more severe.[2]

There have been reports of some affected individuals having various other abnormalities including multiple malformations, panmyelopathy, and latent diabetes.[1]
Last updated: 2/1/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Nonspherocytic hemolytic anemia due to hexokinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Cholecystitis -
Cholelithiasis -
Congenital onset -
Hyperbilirubinemia -
Jaundice -
Nonspherocytic hemolytic anemia -
Normochromic anemia -
Normocytic anemia -
Reticulocytosis -
Splenomegaly -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Rijksen G, Akkerman JW, van den Wall Bake AW, Hofstede DP, Staal GE. Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia. Blood. January 1983; 61(1):12-18.
  2. Hexokinase deficiency. European Network for Rare and Congenital Anaemias. 2013; http://www.enerca.org/anaemias/38/hexokinase-deficiency. Accessed 1/30/2013.
  3. Pyruvate kinase deficiency. MedlinePlus. February 2, 2012; http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed 2/1/2013.


Other Names for this Disease
  • Hexokinase deficiency hemolytic anemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.