Non-spherocytic hemolytic anemia due to hexokinase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 90031
OMIM Id: 235700
ICD-10: D55.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 17 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Hemolytic anemia due to a disorder of glycolytic enzymes
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001744) Splenomegaly 337 / 7739
2
(HPO:0001082) Cholecystitis 9 / 7739
3
(HPO:0000952) Jaundice 105 / 7739
4
(HPO:0001081) Cholelithiasis 36 / 7739
5
(HPO:0001878) Hemolytic anemia 83 / 7739
6
(HPO:0001923) Reticulocytosis 28 / 7739
7
(HPO:0001930) Nonspherocytic hemolytic anemia 10 / 7739
8
(HPO:0001895) Normochromic anemia 7 / 7739
9
(HPO:0001903) Anemia 289 / 7739
10
(HPO:0001897) Normocytic anemia 7 / 7739
11
(HPO:0002904) Hyperbilirubinemia 32 / 7739
12
(OMIM) Increased fetal hemoglobin 5 / 7739
13
(OMIM) Decreased hexokinase activity in red blood cells 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003).
Clinical Description OMIM Valentine et al. (1967) described a child with anemia present from birth and deficiency of red cell hexokinase. The father and one sib had low levels. The mother's level was also low but within the range of normal. ...
Molecular genetics OMIM Bianchi and Magnani (1995) reported the molecular characterization of the defect in HK1 in a patient with hemolytic anemia due to hexokinase deficiency. PCR amplification and sequence of the cDNA revealed compound heterozygosity for a deletion and a ...