Table 1

Results of screening of cord blood samples from 5605 newborns for α thalassaemia and blood samples from 7792 adults for β thalassaemia in Guangdong Province

VariableNumber of samples or allelesPer cent
*The number of carriers with both deletional and non-deletional mutations and patients with hydrops fetalis and Hb H disease; †novel mutations found during our survey.
Samples with Hb Bart’s3716.62
    α Thalassaemia*340
Silent carriers without Hb Bart’s1292.30
    (−α3.7) Deletion102
    (−α4.2) Deletion27
α Thalassaemia chromosomes4788.53
    (−−SEA) Deletion2324.14
    (−α3.7) Deletion1743.10
    (−α4.2) Deletion530.95
    (−αCS) Mutation100.18
    (−−THAI) Deletion20.04
    (−αQS) Mutation20.04
    (−−11.1) Deletion†10.02
    α1CD118 (+TCA)†10.02
    ζ-α Gene deletion10.02
β Thalassaemia chromosomes1982.54
    Deletion of CTTT at codons 41–42720.92
    C→T at position 654 in IVS2490.63
    A→G at nucleotide −28330.42
    G→A at codon 26 (Hb E)100.13
    A→T at codon 1780.10
    Insertion of A at codons 71–7270.09
    G→T at codon 4370.09
    A→G at nucleotide −2940.05
    Insertion of A at codons 27–2840.05
    β Gene deletion†10.01