Italian Type of Deletional Hereditary Persistence of Fetal Hemoglobin
نویسنده
چکیده
We report a new type of deletion of the fi globin gene cluster in the Italian population that confers a phenotype of hereditary persistence of fetal hemoglobin (HPFH) to the carriers. This deletion begins -5 kilobases (kb) 5’ to the #{246} globin gene and ends -30 kb 3’ to the fi globin gene. in close proximity to the 3’ end of an Indian HPFH. In all four previously described HPFH. a repetitive Alu I region 5’ to the globin gene is largely or completely deleted; the 5’ end of the new HPFH is consistent with this common feature. In addition. the finding that Italian and Indian HPFHs. as
منابع مشابه
Italian type of deletional hereditary persistence of fetal hemoglobin.
We report a new type of deletion of the beta globin gene cluster in the Italian population that confers a phenotype of hereditary persistence of fetal hemoglobin (HPFH) to the carriers. This deletion begins approximately 5 kilobases (kb) 5' to the delta globin gene and ends approximately 30 kb 3' to the beta globin gene, in close proximity to the 3' end of an Indian HPFH. In all four previously...
متن کاملNature of fetal hemoglobin in the Greek type of hereditary persistence of fetal hemoglobin with and without concurrent beta-thalassemia.
The fetal hemoglobin in the affected members of three Greek families with the hereditary persistence of fetal hemoglobin has only gamma-chains of the type with alanine in position 136. Although certain Negro families had been considered to have only this type of gamma-chains in their fetal hemoglobin, further studies required that they be reclassified. Consequently, the Greek cases are the sole...
متن کاملA new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer.
A new deletion of the beta-globin gene cluster has been characterized in two Italian brothers who are heterozygous carriers of a G gamma A gamma hereditary persistence of fetal hemoglobin (HPFH). Restriction endonuclease mapping and DNA sequencing of the region encompassing the breakpoint show that the deletion starts 3.2 kilobases (kb) upstream from the delta gene and ends within the enhancer ...
متن کاملFetal Hemoglobin Synthesis in Erythroid Cultures in Hereditary Persistence of Fetal Hemoglobin and @#{176}-Thalassemia By Rona
To determine whether hemoglobin regulation is normal in diseases affecting 1-globin gene expression. globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/fi#{176}-thalassemia (HPFH/$#{176}-thal). The HPFH defect is the Ghanian type II. with a deletion from t’$ to at least 20 kb 3’ to . The / #{176}-thaI gene has the haplotype II restr...
متن کاملFetal Hemoglobin Synthesis in Erythroid Cultures in Hereditary Persistence of Fetal Hemoglobin and @#{176}-Thalassemia
To determine whether hemoglobin regulation is normal in diseases affecting 1-globin gene expression. globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/fi#{176}-thalassemia (HPFH/$#{176}-thal). The HPFH defect is the Ghanian type II. with a deletion from t’$ to at least 20 kb 3’ to . The / #{176}-thaI gene has the haplotype II restr...
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