溶血病因系统分析在遗传性溶血性贫血诊断和鉴别诊断中的应用

OBJECTIVE: Study on the application of the systematic analysis strategies of etiology in final and differential diagnosis of hereditary hemolytic anemia (HHA). METHODS: Analysis of 1 506 patients with suspected hemolytic anemia (HA) in systematic hemolytic etiological analysis. RESULTS: ①1 413(94%) of the total 1 506 patients [male 799, female 707, median age 22-year-old (4 days to 86-year-old)]were caused by membranopathy, hemoglobinopathy and enzymopathy, documented the three major causes of HHA. 369 cases (26%) of the 1 413 patients showed complex type of HA, which had the coexistence of two or more hereditary defects concerning HA in red cells, the other 1 044 cases (74%) were HA with single hemolytic cause. ②In 1 044 cases of single HA, hemoglobinopathy, membranopathy and enzymopathy was 22%, 63% and 15%, respectively. When single HA plused complex HA, the hemoglobinopathy, membranopathy and enzymopathy was 29%, 57% and 14% respectively. The difference was not statistically significant (P >0.05). ③The most common double heterozygosis with different genetic defects was hemoglobinopathy complicated with membranopathy (50%, 184/369). The complex HA was also found in patients with the enzymopathy complicated with membranopathy (18%, 66/369) and with hemoglobinopathy (4%, 13/369). Some of complex HA patients had the same kinds of genetic defects which means double hemoglobinopathies (29 cases, 8%), membranopathies (57 cases, 15%) and enzymopathies (9 cases, 2%). Other kinds (11 cases, 3%) of complex HA, anemia and jaundice were seen in HAA patients accompanied with acquired and secondary defects or other system abnormalities. CONCLUSION: The parallel etiologic examination of three major genetic hemolytic diseases can be 94% of patients for classification. The results showed that the first cause of HAA was membranopathy, second hemoglobinopathy and then enzymopathy. Complex hemolysis is not uncommon and single factor analysis alone is not enough to provide scientific basis for diagnosis.