Гемолітична анемія внаслідок дефіциту аденілаткінази
ORPHA:86817· ICD-10 D55.3· Hemolytic anemia due to adenylate kinase deficiency
Визначення(English summary)
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal