© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Haemoglobinopathies

This PowerPoint file contains a number of slides that may be useful for teaching of genetics concepts.

You may use these slides and their contents for non-commercial educational purposes.

This presentation includes:

•Blood films, clinical photographs and x-rays of patients affected with sickle cell and thalassaemia.

•DNA and protein sequence changes in sickle cell & thalassaemia.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 4.1 ©Scion Publishing Ltd

Sickle cell disease

(a) Blood film showing a sickled cell, marked poikilocytosis (abnormally shaped red cells) and a nucleated red cell. (b and c) Bony infarcations in the phalanges and metacarpals can result in unequal finger length.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 5.1 ©Scion Publishing LtdPhotos courtesy of Dr Andrew Will

Effects of thalassaemia

(a) Blood film with very marked hypochromia and many nucleated red cells.

(b) Osteoporotic appearance of hands due to bone marrow extension.

(c) ‘Hair on end’ skull.

(d) Liver biopsy with Pert’s stain, showing iron overload.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 6.5 ©Scion Publishing Ltd

In sickle cell disease an A>T nucleotide substitution causes glutamic acid to be replaced by valine at position 6 of the β-globin protein.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 6.6 ©Scion Publishing Ltd

The p.Gln39X mutation in the β-globin gene near the start of exon 2 converts a glutamine codon into a stop codon. Lower case letters represent intron, upper case exon.