Screening for alpha-thalassemia-1 heterozygotes in expecting couples by the combination of a simple erythrocyte osmotic fragility test and a PCR-based method

Community Genetics
Torpong SanguansermsriH F Steger

Abstract

To develop a simple method for the prospective identification of couples at risk of homozygous alpha-thalassemia-1 (Hb Bart's hydrops fetalis) in pregnancy. Antenatal care (ANC) women and their husbands were analyzed using a simple erythrocyte osmotic fragility (EOF) test and a PCR-based method for the detection of the mutation leading to alpha-thalassemia-1 of the Southeast Asian type (SEA). Heterozygosity for the alpha-thalassemia-1 (SEA) deletion was found to correlate with an EOF value <60%. For a prospective screening, ANC women and their husbands are analyzed with the EOF test and only those having a value <60% were further checked by PCR. Of 2,769 cases analyzed during a 6-month period, 24 couples in which both partners are heterozygotes could be identified for genetic counseling and prenatal diagnosis. The application of the EOF test decreased the workload for PCR by approximately 80%. Prospective screening for alpha-thalassemia-1 (SEA) heterozygotes in northern Thailand is becoming easier to realize by the combination of EOF test and PCR.

Citations

Sep 11, 2012·Annals of Hematology·Nongnuch SirachainanPimlak Charoenkwan
Jun 18, 2009·Analytical Sciences : the International Journal of the Japan Society for Analytical Chemistry·Supada KhonyoungKate Grudpan
Sep 22, 2010·Hemoglobin·Sakorn PornprasertKanyakan Sukunthamala
Jul 14, 2009·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·S SirichotiyakulT Tongsong
Feb 3, 2005·Clinical and Laboratory Haematology·O TangvarasittichaiTorpong Sanguansermsri
Mar 13, 2010·Prenatal Diagnosis·S SirichotiyakulTorpong Sanguansermsri
Aug 25, 2004·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·S SirichotiyakulT Tongsong
Jun 1, 2005·Hemoglobin·Pimlak CharoenkwanTorpong Sanguansermsri
Feb 9, 2013·Clinical Chemistry and Laboratory Medicine : CCLM·Nantawan WangmaungWanida Ittarat

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