It is a unique glycolyticenzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.
The most common mutation causing TPI deficiency is TPI Glu104Asp. Interestingly, all carriers of the mutation are descendants of a common ancestor, a person that lived in what is today France or England more than 1000 years ago.
^Schneider, Arthur S.; William N. Valentine; Hattori M; H. L. Heins Jr (1965). "Hereditary Hemolytic Anemia with Triosephosphate Isomerase Deficiency". New England Journal of Medicine272 (5): 229–235. doi:10.1056/NEJM196502042720503. PMID14242501.
^ abSchneider, Arthur S. (Mar 2000). "Triosephosphate isomerase deficiency: historical perspectives and molecular aspects". Best Practice & Research Clinical Haematology13 (1): 119–140. doi:10.1053/beha.2000.0061. PMID10916682.
^Schneider A, Westwood B, Yim C, et al. (1996). "The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families". Blood Cells Mol. Dis.22 (2): 115–25. doi:10.1006/bcmd.1996.0019. PMID8931952.