Lehmann H, Carrell R W
Br Med J. 1968 Dec 21;4(5633):748-50. doi: 10.1136/bmj.4.5633.748.
Human adult haemoglobin consists of two unlike pairs of polypeptide chains, and can be described as alpha(2)beta(2). Amino-acid substitutions in either of the two types of chain result in alpha- and beta-chain variants. In thalassaemia, which causes a lowered production of haemoglobin, the alpha or the beta chain can be affected, the result being alpha- or beta-thalassaemia. There is a quantitative difference in the proportion of alpha- and beta-chain variants to normal haemoglobin in the respective heterozygotes, and there is also a difference in the pattern of inheritance of alpha- and beta-thalassaemia: these could possibly be explained by assuming that man has one gene for the beta- and two for the alpha-chain.
成人血红蛋白由两对不同的多肽链组成，可描述为α(2)β(2)。两种链中任一种的氨基酸替换都会导致α链和β链变体。在导致血红蛋白生成减少的地中海贫血中，α链或β链可能会受到影响，结果分别是α地中海贫血或β地中海贫血。在各自的杂合子中，α链和β链变体与正常血红蛋白的比例存在数量差异，并且α地中海贫血和β地中海贫血的遗传模式也存在差异：假设人类有一个β链基因和两个α链基因，这些差异可能得到解释。
