Molecular Diagnosis of Thalassemias and Hemoglobinopathies
نویسندگان
چکیده
منابع مشابه
Molecular 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 کاملPrenatal 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 کاملThe relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies.
OBJECTIVES The increase in hemoglobin (Hb) F level is variably associated to the presence of beta thalassemia trait, and is more typical in presence of deltabeta thalassemia and of hereditary persistence of fetal hemoglobin. In normal healthy subjects variable levels of HbF are related to the presence of the polymorphism (G)gamma -158 (C>T). Moreover, HbF can also be variably increased in assoc...
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 کاملMulticenter validation of fully automated capillary electrophoresis method for diagnosis of thalassemias and hemoglobinopathies in Thailand.
Thalassemias and hemoglobinopathies are highly prevalent in Thailand and other Southeast Asian countries. Accurate and precise separation of hemoglobin types, together with reliable quantitation, are essential for differential diagnosis of these diseases. Presented in this study is a multicenter validation of a fully automated capillary electrophoresis (CE) method for hemoglobin separation and ...
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ژورنال
عنوان ژورنال: American Journal of Clinical Pathology
سال: 2017
ISSN: 0002-9173,1943-7722
DOI: 10.1093/ajcp/aqx047