HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (HK1)

Question 1

What is  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (HK1)?

Accepted Answer

very rare (24 cases)

autosomal recessive

mutation in the HK1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 235700

Question 3

Which enzymes are involved?

Accepted Answer

Hexokinase-1

Disease	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (HK1)
Synonym	HK1
OMIM	235700 OMIM = Online Mendelian Inheritance of Men
Orphanet	90031
Protein (UniProt)	Hexokinase-1
ExPASy	2.7.1.1
Gene locus	10q22.1
ICD	D55.2
Summary	very rare (24 cases) autosomal recessive mutation in the HK1 gene
Laboratory findings	Bilirubin inc (urine) Hemoglobine dec (blood) Retikulocytes inc (blood)
Symptoms	anemia hemolytic anemia jaundice onset, infancy onset, neonatal splenomegaly (large spleen)