HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (GPI)

Question 1

What is  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (GPI)?

Accepted Answer

very rare 35 patients)

autosomal recessive

mutation in the PHI gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 613470

Question 3

Which enzymes are involved?

Accepted Answer

Glucose-6-phosphate isomerase

Disease	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (GPI)
OMIM	613470 OMIM = Online Mendelian Inheritance of Men
Orphanet	712
Protein (UniProt)	Glucose-6-phosphate isomerase
ExPASy	5.3.1.9
Gene locus
ICD	D55.2
Summary	very rare 35 patients) autosomal recessive mutation in the PHI gene
Laboratory findings	Bilirubin inc (serum) Hemoglobine dec (blood)
Symptoms	anemia ataxia gallstones, cholelithiasis hemolytic anemia jaundice muscle weakness onset, infancy splenomegaly (large spleen)