Molecular basis of hemoglobin-H disease in the Mediterranean population
Open Access
- 1 December 1979
- journal article
- Published by American Society of Hematology in Blood
- Vol. 54 (6) , 1434-1438
- https://doi.org/10.1182/blood.v54.6.1434.1434
Abstract
We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with a single remaining alpha-globin gene. The nondeletion type of alpha-thalassemia was found in 3, and a “dysfunctional” gene in one. We conclude that the predominant cause of alpha-thalassemia in these populations is gene deletion.Keywords
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