Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

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dc.contributor.authorFucharoen, Sen_US
dc.contributor.authorWinichagoon, Pen_US
dc.contributor.authorThonglairoam, Ven_US
dc.contributor.authorSiriboon, Wen_US
dc.contributor.authorSiritanaratkul, Nen_US
dc.contributor.authorKanokpongsakdi, Sen_US
dc.contributor.authorVantanasiri, Cen_US
dc.date.accessioned2009-05-27T16:04:53Z
dc.date.available2009-05-27T16:04:53Z
dc.date.issued1991-03-01en_US
dc.descriptionThe Southeast Asian Journal of Tropical Medicine and Public Health. 32 references.en_US
dc.description.abstractIn this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling, can support prevention and control programs for thalassemia.en_US
dc.description.affiliationThalassemia Center, Faculty of Medicine Siriraj Hospital, Bangkok, Thailand.en_US
dc.identifier.citationFucharoen S, Winichagoon P, Thonglairoam V, Siriboon W, Siritanaratkul N, Kanokpongsakdi S, Vantanasiri C. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies. The Southeast Asian Journal of Tropical Medicine and Public Health. 1991 Mar; 22(1): 16-29en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/34371
dc.language.isoengen_US
dc.source.urihttps://www.tm.mahidol.ac.th/seameo/publication.htmen_US
dc.subject.meshFemaleen_US
dc.subject.meshHemoglobin Een_US
dc.subject.meshHemoglobins, Abnormalen_US
dc.subject.meshHemoglobinuria --diagnosisen_US
dc.subject.meshHumansen_US
dc.subject.meshHydrops Fetalis --diagnosisen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosis --methodsen_US
dc.subject.meshThalassemia --diagnosisen_US
dc.titlePrenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
dc.typeReviewen_US
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