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. 1983 Jun;20(3):206–209. doi: 10.1136/jmg.20.3.206

alpha-Thalassaemia in Apulia: biosynthetic studies.

G Guanti, A Lonoce, A Pietrapertosa, G Polimeno, N Tannoia
PMCID: PMC1049047  PMID: 6876112

Abstract

Analysis of haemoglobin chain synthesis was performed in 15 Apulian patients with Hb H disease and in their patients and offspring. The Apulian carriers of Hb H disease show a marked imbalance of alpha and beta chain synthesis (0.39 +/- 0.1) with variable clinical and haematological manifestations. However, we are dealing with an intermediate form similar to that described in Italians from other regions. A significant difference was found between the mean alpha/beta ratio values (0.81 +/- 0.13) of parents and offspring of Hb H patients and those of the normal controls (1.05 +/- 0.09); however, extensive overlapping between these two groups exists. These results have led us to the conclusion that the forms of alpha-thalassaemia found in Apulia are similar to the alpha defects observed in Sicily; in both cases, in fact, haemoglobin chain synthesis was an unreliable test for discriminating between alpha-thalassaemia-1 trait and alpha-thalassaemia-2 trait.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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