Sickle Cell Open Education

Version 2 Guide to school policy for young people with sickle cell disease

Content Author:
Professor Simon Dyson (and research team)

Level:
Healthcare professionals, teachers, policy makers, researchers

OER Features:

Guide for schools V2 Word Document: SCOOTEROER112a_Simon Dyson Guide for Schools_V2_June 2016

Guide for Schools V2 PDF: SCOOTEROER112b_Simon Dyson Guide for Schools_V2_June 2016

OER Description:

The most popular resource by far on this website is Professor Dyson’s ‘Guide for Schools’, and this page provides an updated version of this. Details of the earlier version can be found here – http://sicklecellanaemia.org/teaching-resources/resources/scooter24-29/scooter25.html – and this resource has been translated into several other languages.

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.

This second blog post provides more background details of the second version of this guide.

ARMS and RFLP for detecting gene mutations

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Content Author:
Dr Mark Fowler

Level:
Undergraduate and postgraduate bioscientist / geneticist

OER Features:

SCOOTER106a_Lab technique ARMS (PDF)

SCOOTER106b_Lab technique ARMS (PPT)

SCOOTER108a_Lab technique RFLP (PDF)

SCOOTER108b_Lab technique RFLP (PPT)

OER Description:

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.

ASO Hybridisation technique for detecting gene mutations

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Content Author:
Dr Mark Fowler

Level:
Undergraduate bioscience student, post graduate bioscientist.

OER Features:
Video depicting ASO hybridisation (above)

SCOOTER107a_Lab technique ASO (PDF of slides)

SCOOTER107c_Lab technique ASO Hybridisation Transcript (PDF of video transcript and notes)

OER Description:

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.

Haemoglobin structures

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Content Author:
Dr Mark Fowler

Level:
Undergraduate bioscience or medical student.

OER Features:

SCOOTER109a_Deoxyhaemoglobin PPT

SCOOTER109b_Deoxyhaemoglobin PDF

SCOOTER110a_DeoxyhaemoglobinS PPT

SCOOTER110b_Deoxyhaemoglobin S PDF

OER Description:

Here are some deoxyhaemoglobin molecules constructed using Jmol – an open-source Java viewer for 3D chemical structures. You can access Jmol here:

http://jmol.sourceforge.net

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.

Patterns of inheritance of sickle cell anaemia

Content Author:
Dr Mark Fowler

Level:
Undergraduate bioscience or medical student

OER Features:

YouTube video

OER Details:

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.