The Shortcut Strategy for Beta Thalassemia Prevention
| Autor: | Khwanruedee Mahingsa, Torpong Sanguansermsri, Teerapat Seeratanachot, Arunee Pingyod, Khajohnsilp Pongsawatkul, Narutchala Suwannakhon, Wanwipa Bumrungpakdee |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Thalassemia Prenatal diagnosis Article Hemoglobin E Disease 03 medical and health sciences 0302 clinical medicine Shortcut strategy Beta thalassemia prevention Hemoglobin E Hemoglobin A2 Hemoglobin A2 hemic and lymphatic diseases Medicine Fetus 030219 obstetrics & reproductive medicine Shortcut strategy lcsh:RC633-647.5 business.industry Obstetrics Hemoglobin E Antenatal blood tests Beta thalassemia lcsh:Diseases of the blood and blood-forming organs Hematology medicine.disease 030220 oncology & carcinogenesis Beta thalassemia prevention business shortcut strategy beta thalassemia prevention hemoglobin E hemoglobin A2 |
| Zdroj: | Hematology Reports; Volume 10; Issue 2; Pages: 7530 Hematology Reports Hematology Reports, Vol 10, Iss 2 (2018) |
| ISSN: | 2038-8330 |
| DOI: | 10.4081/hr.2018.7530 |
| Popis: | We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples. Antenatal blood samples of 1,115 couples were transferred from the antenatal care clinic. Hemoglobin A2 was quantified, and proportions ≥3.5% were further assessed for beta thalassemia mutation using HRM analysis. Twelve types of beta thalassemia mutations, including hemoglobin E, were identified. There were 23 couples who were detected as at-risk. All at-risk couples were identified within 7 working days after sample receipt. Prenatal diagnosis revealed 6 affected fetuses. One fetus was homozygous CD17 (AT), and five fetuses exhibited beta0 – thalassemia/ hemoglobin E disease. These results were consistent with the outcomes calculated using the Hardy-Weinberg equation. Antenatal blood tests for mutation detection using high-resolution DNA melting analysis after hemoglobin A2 estimation is a feasible laboratory method for the recruitment of couples with a fetus that is at risk for beta thalassemia. This modified strategy is cost-effective and may be beneficial for use in a beta thalassemia prevention program. |
| Databáze: | OpenAIRE |
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