Musumeci S, Schilirò G, Pizzarelli G, Fischer A, Russo G
J Med Genet. 1978 Dec;15(6):448-51. doi: 10.1136/jmg.15.6.448.
A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.
描述了一个西西里家庭，其中α地中海贫血基因在几个成员中与β地中海贫血相互作用，导致α/β链产生比例平衡。在一名患有纯合β地中海贫血的患者中，α地中海贫血的存在导致疾病的临床表型较轻，α/非α比例的失衡不明显，且HbF水平较低。需要对血红蛋白合成进行进一步研究，以阐明由不同形式的地中海贫血相互作用所导致的复杂遗传情况。
