地中海贫血的遗传变异性。一项家族研究。
The genetic variability of thalassaemia. A family study.
作者信息
De la Torre E, Svarch E, Colombo B
出版信息
J Med Genet. 1973 Dec;10(4):392-5. doi: 10.1136/jmg.10.4.392.
Abstract
Two step-brothers, homozygotes for β-thalassaemia, have been studied. One of them showed the characteristics of Cooley's anaemia, whereas the other was almost symptomless. The existence of two different β-thalassaemic genes is discussed in relation to the haematological and clinical findings.
摘要
对两名β地中海贫血纯合子的异父兄弟进行了研究。其中一人表现出库利贫血的特征，而另一人几乎没有症状。结合血液学和临床发现，讨论了两种不同β地中海贫血基因的存在情况。
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本文引用的文献
1
Estimation of small percentages of foetal haemoglobin.
Nature. 1959 Dec 12;184(Suppl 24):1877-8. doi: 10.1038/1841877a0.
2
Rapid estimation of hemoglobin A2 by DEAE chromatography.
Biochem Genet. 1969 Jan;2(4):305-10. doi: 10.1007/BF01458491.
3
Translation of rabbit haemoglobin messenger RNA by thalassaemic and non-thalassaemic ribosomes.
Nat New Biol. 1971 Jun 16;231(24):205-8. doi: 10.1038/newbio231205a0.
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