The reason for this second edition is change to UK law with the introduction of the Children and Families Act of 2014. This requires schools to make provision for young people with conditions such as sickle cell disease, and the guide further supports this.
We hope this guide is useful and it continues to lead improvements in the way that young people with SCD are integrated into school.
ARMS (Amplification-refractory mutation system) is a PCR technique used in sickle cell disorder molecular diagnosis. (ARMS-PCR). These resources contain figures that step you through the basis of the process.
RFLP (Restriction fragment length polymorphisms) are other molecular techniques for identifying β-globin mutations in sickle cell disorder. A β–globin gene mutation is a common error which affects haemoglobin structure. You may wish to refer to our other genetics animated resources to explain these processes in more detail.
A resource describing ASO hybridisation which is a common tool in molecular biology, genetic testing or forensic research.
In the human disease sickle cell, there is a genetic mutation in the blood protein beta-haemoglobin. ASO can be used to detect the mutation in a DNA sample and therefore is used to identify the presence of the sickle cell mutation.
The images here are of deoxyhaemoglobin versus deoxyhaemoglobin S, and you can see how a simple genetic mutation can cause an alteration in molecular structure. It is this transformation that causes the development of sickle cell disease.
Undergraduate bioscience or medical student
This resource introduces some genetic terminology – for example what is genotype, and what is phenotype. It then steps you through how sickle cell anaemia can be inherited, and provides different patterns of outcome.