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Molecular defects in Hb H hydrops fetalis 总被引:7,自引:0,他引:7
VIVIAN CHAN V. WAN-YIN CHAN MARY TANG K. LAU D. TODD & T. K. CHAN 《British journal of haematology》1997,96(2):224-228
The molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases are due to co-inheritance of a 'non-deletion' defect affecting the α2 gene: at codon 30 (ΔGAG, Glu) and codon 59 (G → A, Gly → Asp) respectively, and a ζ-α thalassaemia (thal) 1 or α thal 1 genotype. These two non-deletion defects, unlike previously described cases, resulted in severe anaemia of the fetuses and emphasize the importance of performing prenatal diagnosis for these families. 相似文献
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In a series of 176 consecutive patients with hepatocarcinoma an increasein red cell count and in hemoglobin significantly above normal levels wereencountered in 17 (10 per cent).An investigation of 28 patients with hepatocarcinoma developing in acirrhotic liver is reported. In three of the patients (10 per cent), the redcell counts and hemoglobin levels were significantly above those encounteredin healthy Chinese.In these 28 patients it has been shown that the plasma volume is increased,and this increase does not differ significantly from that encountered in uncomplicated cirrhosis of the liver. The total red cell volume, on the otherhand, is significantly greater than in uncomplicated cirrhosis of the liver. Whilethe mean total red cell volume in hepatocarcinoma is not significantly different from that in healthy controls, consideration of this finding in individualpatients shows that it was above normal in 17, normal in six, and in the remaining five it was below normal.It is concluded that the polycythemia encountered is a true polycythemiasecondary to the development of the hepatocarcinoma. The expanded plasmavolume is considered probably attributable to the pre-existing cirrhosis ofthe liver. Unfortunately, in the course of this investigation we did not encounter a patient in whom the carcinoma had developed in a liver whichwas not cirrhotic. Submitted on April 8, 1957 Accepted on November 18, 1957 相似文献