Hexokinase deficiency
| Hexokinase deficiency | |
|---|---|
| Other names | HK deficiency, Non-spherocytic hemolytic anemia due to hexokinase deficiency, NSHA due to HK1 deficiency, and Hexokinase deficiency hemolytic anemia.[1] |
 | |
| Hexokinase deficiency is an autosomal recessive disorder. | |
| Specialty | Hematology  |
Hexokinase deficiency is an extremely rare
red cell enzymes.[2] Hexokinase deficiency manifests is associated with chronic nonspherocytic hemolytic anemia.[3] Hemolytic anemia seems to be the only clinical sign of hexokinase deficiency.[4] In 1967 the first case of hexokinase deficiency was described by Valentine et al,[5] since then, less than 50 cases have been reported.[6]
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.[7] Intrauterine fetal death results from a total loss of HK1 expression.[8]
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.[9]
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.[6]
Treatment
Treatment includes
See also
References
- ^ "Monarch Initiative". Monarch Initiative. Retrieved December 18, 2023.
- PMID 27282571.
- PMID 24750686.
- PMID 6235866.
- PMID 6015552.
- ^ ISBN 9780323291774. Retrieved 18 December 2023.
- S2CID 11829430.
- PMID 12211198.
- ^ Braunstein, Evan M. (June 13, 2022). "Overview of Hemolytic Anemia". Merck Manuals Professional Edition. Retrieved December 18, 2023.
Further reading
- Bianchi, Marzia; Crinelli, Rita; Serafini, Giordano; Giammarini, Camilla; Magnani, Mauro (1997). "Molecular bases of hexokinase deficiency". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1360 (3). Elsevier BV: 211–221. PMID 9197463.
- Rijksen, G; Akkerman, JW; van den Wall Bake, AW; Hofstede, DP; Staal, GE (January 1, 1983). "Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia". Blood. 61 (1). American Society of Hematology: 12–18. PMID 6848140.
- Rijksen, G; Staal, G E (August 1, 1978). "Human erythrocyte hexokinase deficiency. Characterization of a mutant enzyme with abnormal regulatory properties". Journal of Clinical Investigation. 62 (2). American Society for Clinical Investigation: 294–301. PMID 27532.
- Khazal, Sajad; Polishchuk, Veronika; Manwani, Deepa; Gallagher, Patrick G.; Prinzing, Samantha; Mahadeo, Kris Michael (August 4, 2016). "Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency". Blood. 128 (5). American Society of Hematology: 735–737. PMID 27297791.
- GILSANZ, FLORINDA (June 1, 1978). "Congenital Hemolytic Anemia Due to Hexokinase Deficiency". Archives of Pediatrics & Adolescent Medicine. 132 (6). American Medical Association (AMA): 636–637. PMID 655151.