Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia.</p><p><b>METHODS</b>Whole blood cell analysis, hemoglobin analysis by capillary zone electrophoresis (CZE), Gap-PCR, polymerase chain reaction-reverse dot blot (PCR-RDB) assay and DNA sequencing.</p><p><b>RESULTS</b>Hb Zurich Albisrieden with α°-thalassemia lead to severe anemia. The genotype of fetus is also Hb Zurich Albisrieden with α°-thalassemia.</p><p><b>CONCLUSION</b>Abnormal hemoglobin with α-thalassemia may lead to severe anemia, Prenatal diagnosis of thalassemia has the vital significance for eugenic birth.</p>