title: Molecular basis of hemoglobin-H disease in the Mediterranean population.
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.
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003535:Cyprus; D004247:DNA; D004720:Endonucleases; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D006824:Hybridization, Genetic; D007558:Italy; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; D006447:Hemoglobin H; D004720:Endonucleases