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Hemolytic anemia due to hexokinase deficiency(CNSHA5)

MedGen UID:: 461693
•Concept ID:: C3150343
•: Disease or Syndrome

Synonyms:	ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5; CNSHA5; 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): Gene(s) directly associated with this condition or phenotype.	HK1 (10q22.1)

Monarch Initiative:	MONDO:0009340
OMIM®:	235700
Orphanet:	ORPHA90031

Definition

Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R. [from ORDO]

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.

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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

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Nonspherocytic hemolytic anemia

MedGen UID:: 871250
•Concept ID:: C4025735
•: Disease or Syndrome

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

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Hyperbilirubinemia

MedGen UID:: 86321
•Concept ID:: C0311468
•: Finding

An increased amount of bilirubin in the blood.

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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.

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Abnormality of blood and blood-forming tissues
Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
- Reduced erythrocyte hexokinase activity
Abnormality of the digestive system
Abnormality of the immune system
- Splenomegaly

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHemolytic anemia due to hexokinase deficiency

Hemolytic anemia due to a disorder of glycolytic enzymes
- Hemolytic 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

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Hemolytic anemia due to hexokinase deficiency(CNSHA5)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

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