Association of Hb S/Hb lepore and δβ-thalassemia/Hb lepore in Sicilian patients: Review of the presence of Hb lepore in Sicily
| Autor: | Elena Mirabile, R. Dickerhoff, Gino Schilirò, R. Testa, Carmela Consalvo |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Heterozygote Adolescent Hemoglobins Abnormal Hemoglobin Sickle Biology Compound heterozygosity Hemoglobins medicine Humans Globin Globin gene Child Sicily δβ thalassemia Chromatography High Pressure Liquid Fetal Hemoglobin Genetics beta-Thalassemia Hemoglobin variants DNA Hematology General Medicine medicine.disease language.human_language Globins Hemoglobinopathy Child Preschool Mutation language Female Hemoglobin Sicilian |
| Zdroj: | European Journal of Haematology. 55:126-130 |
| ISSN: | 1600-0609 0902-4441 |
| Popis: | The hemoglobin (Hb) lepore-Boston is a beta-globin structural variant, produced in a reduced amount and formed from the fusion of N-terminus delta-(residues 1-87) and C-terminus beta-chains (residues 116-146). This type of fusion protein is quite common in Southern Italy (Campania, Calabria, and Sicily). We report here the hematological and hemoglobin data on 96 unrelated Sicilians with Hb lepore trait. Particularly interesting are the subjects where Hb lepore occurs with Hb S or Sicilian type delta beta-thalassemia. In these individuals, striking features are clinical variability and different hematological pictures. These observations underscore the importance of thalassemia screening in these geographic areas, such as Southern Italy, principally Sicily, where the mutations in globin gene clusters are especially prevalent. Moreover, as from the second half of the last century, owing to high migratory flux from Sicily to Northern Europe, North and South America, and Australia, the Hb lepore, as well as other hemoglobin variants, have become prevalent, making the identification of the heterozygotes a problem of general interest. |
| Databáze: | OpenAIRE |
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