Hb Bart's in cord blood: an accurate indicator of alpha-thalassemia.
We quantified Hb Bart's (gamma4) levels by high performance liquid chromatography (HPLC) in 103 fresh cord blood samples from Homerton Hospital, East London, UK. The alpha-globin gene arrangement was determined by Southern blot hybridization and genomic sequence analysis of the alpha-globin genes. The cord blood Hb Bart's levels ranged from 0.5 to 11.9% of total hemoglobin (Hb) and were arranged into three categories: i) levels below 1.5%; ii) levels between 1.5 and 5.7%; iii) levels above 6.1%. These corresponded to a normal alpha-globin genotype, a single deleted/inactivated alpha-globin gene and two deleted/inactivated alpha-globin genes, respectively. The study identified the 3.7 kb and 20.5 kb alpha-thalassemia (thal) deletions, three non deletional alpha-thal mutations and a novel alpha-globin gene rearrangement. Hb Bart's screening of fresh umbilical cord blood is an effective method to evaluate globin chain imbalance. This strategy could be utilized to screen populations for the incidence of alpha-thal and also to identify rare or new molecular lesions that reduce alpha-globin gene expression.
Rugless
Michelle J
MJ
Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK. michelle.rugless@molecular-medicine.oxford.ac.uk
Fisher
Chris A
CA
Stephens
Adrian D
AD
Amos
Roger J
RJ
Mohammed
Tanwir
T
Old
John M
JM
D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005312:Fetal Blood / Q000737:chemistry*; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007231:Infant, Newborn; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's