Hemoglobin, 31 (4):463–469, (2007) Copyright © Informa Healthcare USA, Inc. ISSN: 0363-0269 print/1532-432X online DOI: 10.1080/03630260701641286 463 LHEM 0363-0269 1532-432X Hemoglobin, Vol. 31, No. 4, August 2007: pp. 1–13 Hemoglobin ORIGINAL ARTICLE SCREENING OF IRANIAN THALASSEMIC FAMILIES FOR THE MOST COMMON DELETIONS OF THE b-GLOBIN GENE CLUSTER Most Common Iranian β-Globin Gene Cluster Deletions F. Esteghamat et al. Fatemehsadat Esteghamat, 1,3 Hashem Imanian, 1 Azita Azarkeivan, 2 Farzin Pourfarzad, 1 Navid Almadani, 1 and Hossein Najmabadi 1,3 1 Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran 2 Blood Transfusion Organization, Research Center, Thalassemia Clinic, Tehran, Iran 3 Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran  db-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 b-globin gene cluster are associated with the clinical manifestation of db-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 per- formed 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 g( A gdb) 0 -thal (-100 kb), Asian-Indian inversion-deletion G g( A gdb) 0 -thal, and the Turkish form of inversion-deletion (db) 0 -thal, as well as the Hbs Lepore, which are characterized by unequal cross- overs between the d- and b-globin genes. We found the Sicilian (-13,377 bp) and Hb Lepore deletions as well as the Asian-Indian G g( A gdb) 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 db-thal in Iranian patients. Our study highlights the importance of detecting these mutations for prenatal diagnosis carrier detection and genotype/phenotype prediction. Keywords δβ-Thalassemia (thal), Iran, δβ-Globin deletions, Hereditary persistence of fetal hemoglobin (HPFH) Received 7 August 2006; accepted 27 June 2007. Address correspondence to Professor Hossein Najmabadi, University of Social Welfare and Reha- bilitation Sciences, Koodakyar St., Daneshjoo Blvd., Tehran, Iran 19834; Tel.: +98-21-221 80138; Fax: +98-21-221 80138; E-mail: hnajm2@yahoo.com; hnajm@mavara.com