Non-spherocytic hemolytic anemia due to hexokinase deficiency

Orpha code: 90031OMIM code: 235700

Definicja

Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in <i>HK1</i>, the gene that encodes red blood cell-specific hexokinase-R.

Disease data
Klasyfikacja

Disease

Kod ORPHA
90031
Kod OMIM
235700
Kod ICD10
D55.2
Kod ICD11
3A10.Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl