The diagnosis and management of hereditary hemolytic anemia / 中国实用内科杂志

ABSTRACT

Hereditary hemolytic anemia(HHA)is a hereditary disorder with main clinical presentation of hemolysis and hemolytic anemia.It's the most common disease of hereditary disorders in the world.According to the pathogenic mechanism,the disorders can be divided into three groupsabnormalities of the red cell membrane,red cell enzyme disorders and hemoglobinopathies.The most common HHA are hereditary spherocytosis,G6PD deficiency and the thalassemias.The clinical presentation of HHA may be heterogeneity.No anemia may occur in the early stage or mild HHA.In order to detect HHA early,we should pay more attention to the morphology of red cell in the peripheral blood film.Recommendation of screening tests with high sensitivity and specificity will be improving the diagnosis of HHA.For correct diagnosis,the medical centres should establish red cell membrane protein electropheresis,direct quantitative assay of red cell enzyme,gene diagnosis and prenatal diagnosis of hemoglobinopathy.