MacDougall L G, Moodley G, Quirk M
Am J Pediatr Hematol Oncol. 1982 Fall;4(3):344-9.
A black infant presented in the newborn period with severe red cell fragmentation, pyknocytosis, and hemolysis necessitating repeated exchange transfusions. Exposure of the red cells to 45 degrees C in vitro caused membrane budding, fragmentation, and sphering similar to that described in pyropoikilocytosis. By 12 months of age the clinical and hematologic picture had evolved to one of a compensated hemolytic disorder with elliptocytosis, but the degree of abnormal thermal sensitivity remained unchanged. Osmotic fragility and authohemolysis tests gave results intermediate between hereditary elliptocytosis and hereditary pyropoikilocytosis. It appears that there is considerable heterogeneity within the red cell membrane disorders exhibiting altered thermal sensitivity.
一名黑人婴儿在新生儿期出现严重的红细胞破碎、棘形红细胞增多症和溶血，需要反复进行换血治疗。体外将红细胞暴露于45摄氏度会导致膜出芽、破碎和球形化，类似于热异形红细胞增多症中所描述的情况。到12个月大时，临床和血液学表现已演变为伴有椭圆形红细胞增多症的代偿性溶血性疾病，但异常热敏感性的程度保持不变。渗透脆性和自身溶血试验结果介于遗传性椭圆形红细胞增多症和遗传性热异形红细胞增多症之间。看来，在表现出热敏感性改变的红细胞膜疾病中存在相当大的异质性。
