title: The screening of Chinese cord blood for haemoglobinopathies.
abstract: The frequency of haemoglobinopathies among the Hong Kong Chinese newborn was examined by screening 932 consecutive cord blood samples by electrophoresis. The findings indicate that 49 (5.2%) had electrophoretic abnormalities, of which 39 (4.2%) demonstrated the presence of Hb Bart's. 14 of these 39 babies were re-investigated after 1 year and all were proven to carry the alpha-thalassaemia gene. This is the first study in which Chinese babies with Hb Bart's in cord blood had the diagnosis of alpha-thalassaemia trait confirmed in later life. 3 out of 4 other babies had different haemoglobin variants, namely Hb alpha Q, Hb J and Hb New York. 1 out of the 6 babies who had elevated A2 levels at birth was found to carry the beta-thalassaemia trait. None had a serious haemoglobinopathy.
mesh_terms: D002681:China / Q000208:ethnology; D005312:Fetal Blood / Q000032:analysis*; D005500:Follow-Up Studies; D006453:Hemoglobinopathies / Q000453:epidemiology*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006723:Hong Kong; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's