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  • Title: Screening of Iranian thalassemic families for the most common deletions of the beta-globin gene cluster.
    Author: Esteghamat F, Imanian H, Azarkeivan A, Pourfarzad F, Almadani N, Najmabadi H.
    Journal: Hemoglobin; 2007; 31(4):463-9. PubMed ID: 17994380.
    Abstract:
    Deltabeta-thalassemia (thal) is a disorder, characterized by increased levels of fetal hemoglobin (Hb F) in adult life. A considerable number of deletions of variable size and position in the beta-globin gene cluster are associated with the clinical manifestation of deltabeta-thal. In this study we have determined the presence of the eight most common deletions in Iranian patients. Thirty-two patients from 19 families were referred to the Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran (a private genetics center), within the past 3 years with elevated levels of Hb F and low mean corpuscular volume (MCV). After obtaining their informed consent, DNA was extracted from whole blood by the salting-out method. Detection of eight deletions was performed using polymerase chain reaction (PCR). These deletions included the hereditary persistence of fetal Hb (HPFH) 1 (Black) and 3 (Indian), Spanish (-114 kb), Sicilian (-13,377 bp), Chinese (G)gamma((A)gammadeltabeta)(0)-thal (-100 kb), Asian-Indian inversion-deletion (G)gamma((A)gammadeltabeta)(0)-thal, and the Turkish form of inversion-deletion (deltabeta)(0)-thal, as well as the Hbs Lepore, which are characterized by unequal crossovers between the delta- and beta-globin genes. We found the Sicilian (-13,377 bp) and Hb Lepore deletions as well as the Asian-Indian (G)gamma((A)gammadeltabeta)(0)-thal in 11 (57.89%), three (15.78%) and five (26.31%) families, respectively. None of the aforementioned deletions were found in one of the patients. This is the first study of the deletions involved in deltabeta-thal in Iranian patients. Our study highlights the importance of detecting these mutations for prenatal diagnosis carrier detection and genotype/phenotype prediction.
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