摘要:

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 α-thalassaemia gene. This is the first study in which Chinese babies with Hb Bart’s in cord blood had the diagnosis of α-thalassaemia trait confirmed in later life. 3 out of 4 other babies had different haemoglobin variants, namely Hb αQ, Hb J and Hb New York. 1 out of the 6 babies who had elevated A2 levels at birth was found to carry the β-thalassaemia trait. None had a serious haemoglobi

ISSN:0001-5652    

DOI:10.1159/000153260

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

Arthrogryposis, an unusual type of ectodermal dysplasia, growth retardation of prenatal onset, and diabetes mellitus were all present in the proposita and are unlikely to have arisen all independently. The combination of at least some of these abnormalities may represent a distinct syndrome.

ISSN:0001-5652    

DOI:10.1159/000153261

出版商:S. Karger AG    

年代:1982

数据来源: Karger