Meloni T, Pilo G, Camardella L, Cancedda F, Lania A, Pepe G, Luzzatto L
Blood. 1980 Jun;55(6):1025-32.
In each of two families from Sardinia, Italy, we have found segregation for two alpha-chain hemoglobin variants, which we have identified as G Philadelphia [alpha 68 (E17) Asn leads to Lys] and J Sardinia [alpha 50 (CE8) His leads to Asp], respectively. One family also shows segregation for the beta-thalassemia trait. One subject in one family and two subjects in the other family have in their red cells both hemoglobin variants, G and J, in addition to HbA. One of the subjects, a newborn baby, has six major hemoglobin components; alpha 2A beta 2, alpha 2A gamma 2, alpha 2G beta 2, alpha 2G gamma 2, alpha 2J beta 2, alpha 2J gamma 2. These three cases are to be added to three previous cases in the literature in whom three different alpha-chains have been found in the same blood. These findings prove that the alpha-chain locus is duplicated in the Sardinian population, as it is in other populations. The relative amounts of the various hemoglobin species found in members of our two families, through three and four generations respectively, suggest that chromosomes with and without duplication may coexist in the same population.
在来自意大利撒丁岛的两个家族中，我们发现了两种α链血红蛋白变体的分离情况，我们分别将其鉴定为G费城型[α68（E17）天冬酰胺突变为赖氨酸]和J撒丁岛型[α50（CE8）组氨酸突变为天冬氨酸]。其中一个家族还显示出β地中海贫血性状的分离。一个家族中的一名受试者和另一个家族中的两名受试者，除了HbA之外，其红细胞中还同时存在G和J这两种血红蛋白变体。其中一名受试者是一名新生儿，其红细胞中有六种主要的血红蛋白成分：α2Aβ2、α2Aγ2、α2Gβ2、α2Gγ2、α2Jβ2、α2Jγ2。这三个病例要加入到文献中之前报道的三个病例中，在那三个病例中，同一份血液中发现了三种不同的α链。这些发现证明，与其他人群一样，撒丁岛人群中的α链基因座是重复的。我们两个家族的成员中分别经过三代和四代所发现的各种血红蛋白种类的相对含量表明，有重复和没有重复的染色体可能在同一人群中共存。
