Molecular Basis of Hemoglobin-H Disease in the Mediterranean Population

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 α-globin gene. The nondeletion...

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Bibliographic Details
Published inBlood Vol. 54; no. 6; pp. 1434 - 1438
Main Authors Kan, Y.W., Dozy, A.M., Stamatoyannopoulos, G., Hadjiminas, M.G., Zachariades, Z., Furbetta, M., Cao, A.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.1979
Subjects
Chromosome Deletion
Chromosome Mapping
Cyprus
DNA
Endonucleases
Globins - genetics
Hemoglobin H - genetics
Hemoglobins, Abnormal - genetics
Humans
Hybridization, Genetic
Italy
Thalassemia - genetics
Cyprus
Italy
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Summary: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 α-globin gene. The nondeletion type of α-thalassemia was found in 3, and a “dysfunctional” gene in one. We conclude that the predominant cause of α-thalassemia in these populations is gene deletion.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V54.6.1434.1434