Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention
نویسندگان
چکیده
The Reference Hemoglobinopathies Laboratory, Dept. of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma (CSMR), Rome, Italy; Laboratory of Medical Genetics, University of Athens, St. Sophia’s Children’s Hospital, Athens, Greece; Bogazici University Dept. Molecular Biology and Genetics Neurodegeneration Research Laboratory, Istanbul Turkey; Department of Biomedical Sciences and Biotechnology, University of Cagliari, Italy, and Laboratory of Human Genetics and Microcitaemias, Ospedali Galliera, Genoa, Italy
منابع مشابه
Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.
When the molecular background of couples requesting prevention is unclear, family analysis and tools to define rare mutations are essential. We report two novel deletion defects observed in an Italian and in a Turkish couple. The first proband presented with microcytic hypochromic parameters without iron deficiency, a normal HbA(2) and an elevated HbF (10.6%). His father presented with a simila...
متن کاملCo-inheritance of α-and β-thalassemia: challenges in prenatal diagnosis of thalassemia
Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. In addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genec counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deleons using mulpl...
متن کاملThe Spectrum of Mutations in 100 Thalassemic Carriers Referred to Ghaem Hospital of Mashhad
Abstract Background Thalassemia is common in the Iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. The molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. Α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly loc...
متن کاملThalassemia in Iran in Last Twenty Years: the Carrier Rates and the Births Trend
Background: Iran is one of the countries located on “the thalassemia belt” with a significant annual number of thalassemia new births. Given the importance of thalassemia prevention, a program to this effect was approved in Iran in 1995. Screening of carrier couples and prenatal diagnosis were the two main elements of this program. In the present study, the authors have tried to address the imp...
متن کاملCo-inheritance of α-and β-thalassemia: challenges in prenatal diagnosis of thalassemia
Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. In addition, definite characterization of co-inheritance of αand β-thalassemia heterozygous carriers may change the process of genetic counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deletions using multiple...
متن کامل