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Hemolytic anemia due to hexokinase deficiency

MedGen UID:
461693
•Concept ID:
C3150343
•
Disease or Syndrome
Synonyms: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY; Hexokinase deficiency hemolytic anemia; Non-spherocytic hemolytic anemia due to hexokinase deficiency
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).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): HK1 (10q22.1)
 
Monarch Initiative: MONDO:0009340
OMIM®: 235700
Orphanet: ORPHA90031

Definition

Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003). [from OMIM]

Clinical features

From HPO
Cholecystitis
MedGen UID:
920
•Concept ID:
C0008325
•
Disease or Syndrome
The presence of inflammatory changes in the gallbladder.
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Cholelithiasis
MedGen UID:
3039
•Concept ID:
C0008350
•
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
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Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
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Normocytic anemia
MedGen UID:
39310
•Concept ID:
C0085577
•
Disease or Syndrome
A kind of anemia in which the volume of the red blood cells is normal.
See: Feature record | Search on this feature
Reticulocytosis
MedGen UID:
60089
•Concept ID:
C0206160
•
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
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Normochromic anemia
MedGen UID:
66731
•Concept ID:
C0235983
•
Finding
See: Feature record | Search on this feature
Nonspherocytic hemolytic anemia
MedGen UID:
871250
•Concept ID:
C4025735
•
Disease or Syndrome
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Hyperbilirubinemia
MedGen UID:
86321
•Concept ID:
C0311468
•
Finding
An increased amount of bilirubin in the blood.
See: Feature record | Search on this feature
Reduced erythrocyte hexokinase activity
MedGen UID:
1053656
•Concept ID:
CN377391
•
Finding
Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to hexokinase deficiency

Professional guidelines

PubMed

Clinical utility of fractionating erythrocytes into "Percoll" density gradients.
Mosca A, Paleari R, Modenese A, Rossini S, Parma R, Rocco C, Russo V, Caramenti G, Paderi ML, Galanello R
Adv Exp Med Biol 1991;307:227-38. doi: 10.1007/978-1-4684-5985-2_21. PMID: 1666816

Supplemental Content

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    Clinical resources

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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