DAT:-
Osmotic fragility test: OF not increased
G6pD: 16 u/gm Hgb (6-14.38)
Hgb electrophoresis: hbA:91.8, HbF:5.9, HbA2:2.3
Triosephosphate Isomerase, B: 65 U/g Hb (750- 1500)
Molecular test: homozygous missense mutation in TPI 1 gene.
Diagnosis: Triosephosphate Isomerase deficiency
Autosomal recessive glycolytic enzymopathy
Exceptionally rare with fewer than 100 patients diagnosed worldwide
Chronic haemolytic anemia
Progessive neurological dysfunction
Cardiomyopathy
Susceptibility to infections
In most cases, death in early childhood
Osmotic fragility test: OF not increased
G6pD: 16 u/gm Hgb (6-14.38)
Hgb electrophoresis: hbA:91.8, HbF:5.9, HbA2:2.3
Triosephosphate Isomerase, B: 65 U/g Hb (750- 1500)
Molecular test: homozygous missense mutation in TPI 1 gene.
Diagnosis: Triosephosphate Isomerase deficiency
Autosomal recessive glycolytic enzymopathy
Exceptionally rare with fewer than 100 patients diagnosed worldwide
Chronic haemolytic anemia
Progessive neurological dysfunction
Cardiomyopathy
Susceptibility to infections
In most cases, death in early childhood