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.
Kelen Cristina Sant’Anna de Lima – Nupad/FM/UFMG e LETRA/FALE/UFMG Igor Antônio Lourenço da Silva – ILEEL/UFU
Gilberto Zulato – Nupad/FM/UFMG
Julia Rodrigues – LETRA/FALE/UFMG
Juliana Maria Gonçalves da Silva – LETRA/FALE/UFMG
In the UK researchers at De Montfort University have examined the lack of care for young people with sickle cell disorder (SCD) at school (Dyson et al, 2010a, 2010b, 2011). This has resulted in the publication of a Guide to School Policy on Sickle Cell. The guide is aimed not primarily at classroom teachers (though they would be very welcome to make use of it) but at those with a broader responsibility. It is written with the following kinds of people in mind: the lead teacher for young people with a medical condition; heads of school year or those responsible for pastoral care in school; school nurses; heads of school nursing; local authority school advisors; school governors, or ministry of education officials. In short it is aimed at those who can influence how schools respond to young people with sickle cell disorder (SCD). This guide has previously been adopted by several UK sickle cell NGOs. It has now been adapted by colleagues working in the state of Minas Gerais in Brazil. Working with colleagues from CEHMOB MG (a multi-disciplinary organization working on sickle cell) and NUPAD part of the medical school at the Federal University of Minas Gerais (UFMG) in Belo Horizonte, Kelen Sant’Anna de Lima, a post-doctoral researcher in socio-linguistics at UFMG, has co-ordinated a team of experts in sickle cell, cultural adaptation and translation to produce a Portuguese language version of the guide. As more and more young people living with sickle cell disease in Brazil grow up to become adults, it is hoped that this guide will help them to achieve the best they can at school in order to best prepare them for adult life.
The Guide was launched at the Second World Congress on Sickle Cell, which took place 11-th-14th November 2014 in Rio de Janeiro. At a special workshop delegates heard from Isabel Castro (CEHMOB MG); Kelen Santa’Anna de Lima (NUPAD); Maria Zeno Soares (FENAFAL, the Federation of Brazilian NGOs for sickle cell) Simon Dyson (De Montfort University) and from the special guest of honour Ilma Fátima de Jesus from the Brazilian Ministry of Education.
The Guide to School Policy that has been adapted and translated into Portuguese by the team at the CEHMOB MG and the Federal University of Minas Gerais.
Dyson, SM; Atkin, K; Culley, LA; Dyson, SE; Evans, H and Rowley, DT (2010a) Disclosure and sickle cell disorder: a mixed methods study of the young person with sickle cell at school Social Science and Medicine 70 (12) 2036-2044. [ISSN: 0277-9536] http://dx.doi.org/10.1016/j.socscimed.2010.03.010
Dyson, SM; Abuateya, H; Atkin, K; Culley, LA; Dyson, SE; and Rowley, DT (2010b) Reported school experiences of young people living with sickle cell disorder in England British Educational Research Journal 36 (1): 125-142 [ISSN 0141-1926] http://dx.doi.org/10.1080/01411920902878941