Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0019045 (
hemoglobinopathies
)
2,704
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Impairment of red cell deformability (and decrease of survival time) is the common trait of congenital haemolytic anemias with the exception of the enzyme defect
glucose-6-phosphate
-dehydrogenase (GPDH) deficiency. Causes for increased red cell rigidity may be: spherocytosis (familial hemolytic anemia), instable less fluid Hb (instable
hemoglobinopathy
), abnormal HbS-formation (sickle cell disease), genetic synthesis defect of Hb chains (homozygous beta-thalassemia), enzyme defects (autosomal recessive pyruvate-kinase deficiency). With GPDH red cell deformability remains unchanged. Splenectomy may be beneficial in anemias with erythrocyte rigidification if clinical condition so requires (repeated transfusions, aplastic and hemolytic crises). Assessment of red cell deformability in vitro saves laborous and exposure to radiation involving testing of cell survival time (e.g. radiochrome test).
...
PMID:[Reduced deformability of erythrocytes as a common denominator of hemolytic anemias]. 354 86
