Molecular haematology was last reviewed by the East Anglia Haematology
Group in 1987. Six years on, the technology has advanced prodigiously
and is now having a major impact on the diagnosis and treatment of ha
ematological disorders. This update focuses on the recombinant DNA tec
hnology now in routine practice, including cloning, sequencing and the
ubiquitous polymerase chain reaction (PCR). Knowledge gained from the
application of these techniques, and those employed to study proteins
, are considered when designing therapeutics for medicine. The genetic
regulation of haemoglobin, probably the archetypal system for workers
in this field, is discussed. Gene therapy is considered for haematolo
gical disorders, and put into perspective. Conclusions from the use in
clinical practice of a mature recombinant protein - factor VIII - are
discussed. The most ambitious research project in the field, to seque
nce the entire human genome, is put in perspective. Some of the ethica
l issues of such work are also considered. Finally, the applications a
nd recent advances of recombinant DNA technology in forensic science a
re summarised.