Detection of β-Thalassemia/Hemoglobin E Disease in Samples which Initially were Diagnosed as Homozygous Hemoglobin E
| Autor: | Asami Moriyama, Kallayanee Treesuwan, Kanyakan Kongthai, Sakorn Pornprasert, Kanokwan Jaiping, Jarurin Waneesorn, Yukio Hattori |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.diagnostic_test business.industry virus diseases Beta thalassemia Hematocrit medicine.disease Molecular biology digestive system diseases General Biochemistry Genetics and Molecular Biology Molecular analysis Hemoglobin E Disease hemic and lymphatic diseases parasitic diseases Hemoglobin E medicine Hemoglobin business Mean corpuscular volume |
| Zdroj: | Clinical Laboratory. 59 |
| ISSN: | 1433-6510 |
| DOI: | 10.7754/clin.lab.2012.120920 |
| Popis: | Background Differentiation of beta-thalassemia/HbE disease from homozygous HbE in samples containing HbA2/E > 75% and HbF Methods Multiplex amplification refractory mutation system (MARMS)-PCR for beta-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A), and IVSI-ntl (G > T) mutations and ARMS-PCR for HbE were performed in 67 samples that contained HbA2/E > 75% and HbF Results Beta-thalassemia/HbE disease was identified in 10 of 67 (14.93%) samples. Levels of hemoglobin, hematocrit, and mean corpuscular volume (MCV) of beta-thalassemia/HbE disease were significantly lower than those of homozygous HbE whereas, levels of HbF were significantly higher. Conclusions In places where the molecular analysis is not available, HbF > 5% in combination with MCV |
| Databáze: | OpenAIRE |
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