Hemoglobin H Disease in Sardinia: Phenctypic and Genetic Observations

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Abstract
The clinical and hematological characteristics, the transmission pattern and the relative rates of globin chain synthesis were determined in the members of 4 Sardinian families with 14 patients affected by Hb H disease. The severity of Hb H disease in Sardinian subjects showed a high degree of variability. Clinically it usually appeared intermediate between the Hb 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 the hematological data and .alpha./.beta. ratio, the genetics of Hb H disease in Sardinians seems to follow a pattern similar to that observed in Orientals. One parent showing .alpha.-thalessemia-1 trait and the other .alpha.-thalassemia-2 trait. Parent offspring transmission of Hb H disease did occur in 2 out of 6 Hb 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 1 family the mating of a patient with Hb H disease and a normal person produced 6/6 offspring with .alpha.-thalassemia-1. The genetic implications of this transmission pattern are discussed.