Thalassemias and Other Hemoglobinopathies in Former Yugoslavia
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چکیده
منابع مشابه
Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.
Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the β-globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal ...
متن کاملPrenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC.
The conventional approach to qualitative and quantitative analyses of hemoglobin (Hb) molecules for the diagnoses of hemoglobinopathies requires a combination of tests. We used an automated HPLC (VARIANT) system to study alpha-thalassemia and beta-thalassemia syndromes in Thailand. The beta-thalassemia short program is applicable to the diagnosis of alpha-thalassemia and beta-thalassemia disord...
متن کاملMolecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review.
Objectives To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. Methods A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail. Results Hemoglobin di...
متن کاملLaboratory investigation of hemoglobinopathies and thalassemias: review and update.
Structural hemoglobin (Hb) variants typically are based on a point mutation in a globin gene that produce a single amino acid substitution in a globin chain. Although most are of limited clinical significance, a few important subtypes have been identified with some frequency. Homozygous Hb C and Hb S (sickle cell disease) produce significant clinical manifestations, whereas Hb E and Hb D homozy...
متن کاملDisaster medicine and wartorn former Yugoslavia.
Abbreviations: EMS = emergency medical services; IRRC = International Resuscitation Research Center; LSFA = life-supporting first-aid; WADEM = World Association for Disaster and Emergency Medicine Sarajevo, the capital of Bosnia and Herzegovina, with a pre-war population of 550,000, has been under siege since April 1992. So far, more than 10,000 people in the city have been killed (including 1,...
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ژورنال
عنوان ژورنال: Balkan Journal of Medical Genetics
سال: 2008
ISSN: 1311-0160
DOI: 10.2478/v10034-008-0013-1