Practical guide to the diagnosis of thalassemia
| Autor: | Kenneth W. Dumars, Corinne D. Boehm, Frank E. Shafer, Peter A. Lane, Patricia J. Giardina, James R. Eckman |
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| Rok vydání: | 1996 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Pregnancy medicine.diagnostic_test Anemia business.industry Thalassemia Ethnic group Context (language use) Prenatal diagnosis medicine.disease Hemoglobinopathy hemic and lymphatic diseases medicine business Mean corpuscular volume Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 62:29-37 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19960301)62:1<29::aid-ajmg7>3.0.co;2-r |
| Popis: | Thalassemias occur in individuals of all ethnic backgrounds and are among the most common genetic diseases worldwide. The diagnosis of thalassemia can easily be part of primary medical practice. Here we outline a practical approach to the detection of thalassemias in three common clinical settings. The first involves any patient with a low mean corpuscular volume (MCV) with or without anemia. The second is a neonatal screening result indicating possible presence of thalassemia. Finally, evaluation for thalassemia should be considered in the context of family planning or pregnancy in patients whose ethnicity indicates origin from high risk geographic areas. We also review the various types of the thalassemia syndromes and provide an overview of general therapeutic considerations. |
| Databáze: | OpenAIRE |
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