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Globin Chain Synthesis in Sicilian Thalassaemic Subjects
Author(s) -
Conconi F.,
Bargellesi A.,
Senno L. Del,
Menegatti E.,
And S. Pontremoli,
Russo G.
Publication year - 1970
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1970.tb06974.x
Subject(s) - globin , incubation , biology , microbiology and biotechnology , gene , genetics , polysome , biochemistry , rna , ribosome
S ummary . Globin synthesis has been studied in two homozygous β‐thalassaemic subjects, in two homozygous β s patients and in four subjects doubly heterozygous for the two β‐gene abnormalities. All the patients considered were of Sicilian origin. The results obtained can be summarized as follows:1 Decreased β‐globin synthesis and excess of α‐globin synthesis was found in all the β‐thalassaemic subjects examined. This finding further suggests the existence of different genetic determinants for the Cooley's disease, directing the synthesis of different amounts of β‐globin in different thalassaemic populations. 2 Ratio of 3 Hα to 3 H counterpart globins was higher than 1 in the initial stages of the incubation, both in the total lysates and in purified haemoglobins. These ratios, after 8 hr of incubation, decrease to values lower than unity. These results suggest that the excess of newly synthesized α‐molecules flows initially from the polyribosomes to the haemoglobins, and then more slowly, to a ‘stromal’α‐pool. 3 Combination of the excess α‐molecules with Hb S in the double hetero‐zygotes considered. This combination indicates that the β‐thalassaemia and the β s genes are present within the same cellular clone.