To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G→T) mutations of the β hemoglobin gene.

The mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis.

The fetus of family 1 was shown to be heterozygous for CD43 (G→T) by the three methods, while the fetus of family 2 was shown to be double heterozygous for CD41-42 (-TCTT) and CD43 (G→T) by multi-color melting curve analysis and sequencing analysis. The two diagnostic kits yielded different results by reverse dot blot, one as double heterozygous for CD41-42 (-TCTT) and CD43 (G→T), and another as homozygous for CD41-42 (-TCTT).

For prenatal diagnosis of couples carrying mutations of β hemoglobin gene such as CD41-42 (-TCTT) and CD43 (G→T), other methods such as Sanger sequencing should be used in order to avoid misdiagnosis.

βthalassemia; Prenatal diagnosis; Nucleic acid hybridization