The importance of the genetic picture and globin synthesis in determining the clinical and haematological features of thalassaemia intermedia.
Twelve carriers of thalassaemia intermedia were studied. Their clinical and haematological picture was distinctly different from that in both heterozygotes and homozygotes for beta thalassaemia. Several genetic patterns were found responsible for thalassaemia intermedia: beta/delta beta thalassaemia, alpha 2 beta/beta thalassaemia-heterocellular HPFH. In a few subjects the genetic picture indicated that the patients were homozygous for beta thalassaemia, in spite of the mildness of the clinical situation. The lack of genetic uniformity was refelcted in very wide Hb A2 (2.5--8.7%) and Hb F (7.5--96.9%) ranges, as opposed to the noticeable degree of biochemical uniformity indicated by the very similar imbalance of globin chain synthesis: 0.33-0.54 for the non-alpha/alpha chain ratio in the peripheral blood. The mean for this parameter (0.43 +/- 0.05) was significantly different (P less than 0.001) from that observed in heterozygous carriers (0.60 +/- 0.10) and homozygous carriers (0.11 +/- 0.05) for beta thalassaemia. The marrow blood displayed a comparable pattern. It is therefore suggested that the severity of thalassaemia is attributable to the degree of chain synthesis imbalance.
D000293:Adolescent; D000328:Adult; D002648:Child; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000096:biosynthesis*; D006443:Hemoglobin A2 / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D008297:Male; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin