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Hexokinase deficiency

Field	Value
name	Hexokinase deficiency
synonyms	HK deficiency, Non-spherocytic hemolytic anemia due to hexokinase deficiency, NSHA due to HK1 deficiency, and Hexokinase deficiency hemolytic anemia.
image	Autosomal recessive - en.svg
caption	Hexokinase deficiency is an autosomal recessive disorder.
specialty

Hexokinase deficiency is an extremely rare autosomal recessive condition that falls under the category of erythroenzymopathies, or defects in red cell enzymes. Hexokinase deficiency manifests is associated with chronic nonspherocytic hemolytic anemia. Hemolytic anemia seems to be the only clinical sign of hexokinase deficiency. In 1967 the first case of hexokinase deficiency was described by Valentine et al, since then, less than 50 cases have been reported.

Signs and symptoms

The main clinical feature of affected individuals is mild to severe hemolytic anemia that lasts a lifetime. However, there have also been rare reports of multiple malformations, including psychomotor retardation. Intrauterine fetal death results from a total loss of HK1 expression.

Hemolytic anemias' systemic symptoms, which include weakness, pallor, exhaustion, and dizziness, are similar to those of other anemias. There may be splenic icterus, jaundice, and/or splenomegaly.

Extremely impacted people may develop neonatal hyperbilirubinemia and subsequently need transfusions on a regular basis to treat their uncontrollable anemia. Anemia is absent and hemolysis is completely compensated for, for those with mild disease. Nonetheless, these patients typically have reticulocytosis, splenomegaly, and jaundice. Gallstones can be seen as early as childhood.

Diagnosis

Treatment

Treatment includes red cell transfusions as needed, supplemental folic acid, and close monitoring for cholelithiasis. Splenectomy may alleviate anemia but does not cure it.

References

"Monarch Initiative".
(2016). "Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1". Elsevier BV.
(2014). "Rare hereditary red blood cell enzymopathies associated with hemolytic anemia – pathophysiology, clinical aspects, and laboratory diagnosis". International Journal of Laboratory Hematology.
(September 1, 1984). "Erythrocyte enzymopathies, hemolytic anemia, and multisystem disease: an annotated review". American Society of Hematology.
(January 5, 1967). "Hereditary Hemolytic Anemia with Hexokinase Deficiency". Massachusetts Medical Society.
(November 14, 2014). "Nathan and Oski's Hematology and Oncology of Infancy and Childhood, 2-Volume Set". Saunders.
(1972). "Hemolytic anemia and hexokinase deficiency associated with malformations". Springer Science and Business Media LLC.
(September 1, 2002). "Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus". American Society of Hematology.
Braunstein, Evan M.. (June 13, 2022). "Overview of Hemolytic Anemia".

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

hereditary-hemolytic-anemias inborn-errors-of-carbohydrate-metabolism

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