HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY

Question 1

What is  HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY?

Accepted Answer

rare

autosomal recessive

mutation in the GSR gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618660

Question 3

Which enzymes are involved?

Accepted Answer

glutathione reductase

Disease	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
OMIM	618660 OMIM = Online Mendelian Inheritance of Men
Orphanet	90030
Gene locus	8p12
ICD	D55.1
Summary	rare autosomal recessive mutation in the GSR gene
Laboratory findings	Hemoglobine dec (blood)
Symptoms	anemia cataract hemolytic anemia jaundice onset, childhood