Galanello R, Melis M A, Furbetta M, Angius A, Rosatelli C, Cao A
Hemoglobin. 1978;2(4):333-49. doi: 10.3109/03630267809005344.
In this study the clinical and hematological characteristics, the transmission pattern and the relative rates of globin chain synthesis were determined in the members of four Sardinian families with 14 patients affected by hemoglobin H disease. The severity of hemoglobin H disease in Sardinian subjects shows a high degree of variability. Clinically it usually appears intermediate between the hemoglobin H disease found in Oriental and Negro populations. The alpha/beta specific activity ratio was 0.42 +/- 0.10 indicating an analogous biochemical defect like that described in the Chinese. On the basis of hematological data and alpha/beta ratio, the genetics of hemoglobin H disease in Sardinians seem to follow a pattern similar to that observed in Orientals: one parent showing alpha-thalassemia-1 trait and the other alpha-thalassemia-2 trait. Parent offspring transmission of hemoglobin H disease did occur in 2 out of 6 hemoglobin H matings with spouses carrying the alpha-thalassemia-1 gene. This observation indicates either a high frequency of alpha-thalassemia trait in Sardinians or a high incidence of inbreeding. In one family the mating of a patient with hemoglobin H disease and a normal person produces 6/6 offspring with alpha-thalassemia-1. The genetic implications of this transmission pattern are discussed.
在本研究中，对四个撒丁岛家庭中14名患血红蛋白H病的成员的临床和血液学特征、传播模式及珠蛋白链合成的相对速率进行了测定。撒丁岛人血红蛋白H病的严重程度表现出高度变异性。临床上，它通常介于在东方人和黑人人群中发现的血红蛋白H病之间。α/β比活性为0.42±0.10，表明存在与中国人中所描述的类似的生化缺陷。基于血液学数据和α/β比值，撒丁岛人血红蛋白H病的遗传学似乎遵循与东方人相似的模式：一方表现为α地中海贫血1特征，另一方表现为α地中海贫血2特征。在6例配偶携带α地中海贫血1基因的血红蛋白H病婚配中，有2例发生了血红蛋白H病的亲子传播。这一观察结果表明撒丁岛人中α地中海贫血特征的高频率或近亲结婚的高发生率。在一个家庭中，一名患血红蛋白H病的患者与一名正常人婚配，产生了6名携带α地中海贫血1的后代。讨论了这种传播模式的遗传学意义。
