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.微量胎儿血红蛋白的测定。
Nature. 1959 Dec 12;184(Suppl 24):1877-8. doi: 10.1038/1841877a0.
2
Rapid estimation of hemoglobin A2 by DEAE chromatography.用二乙氨基乙基纤维素色谱法快速测定血红蛋白A2
Biochem Genet. 1969 Jan;2(4):305-10. doi: 10.1007/BF01458491.
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Translation of rabbit haemoglobin messenger RNA by thalassaemic and non-thalassaemic ribosomes.地中海贫血和非地中海贫血核糖体对兔血红蛋白信使核糖核酸的翻译。
Nat New Biol. 1971 Jun 16;231(24):205-8. doi: 10.1038/newbio231205a0.
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