ࡱ> qsp5@ Rbjbj222XX bbbbvM 2L   R  TTTTT Ttt ǥb:t\ 0M t (" t t T^J ^WHAT DOES IT MEAN TO BE A "GENETIC CARRIER" FOR THALASSAEMIA - THAT IS HAVE THALASSAEMIA MINOR? People who are carriers of a mutation in one of their haemoglobin genes have one normal copy of the gene and one copy which is mutated. While this may cause a mild anaemia, they usually have good health and their bodies function normally. However, genetic carriers can pass the mutation on to their children as described below. HOW DOES A PERSON GET THALASSAEMIA MAJOR OR MINOR? The genes involved in the production of the alpha and beta chains of haemoglobin are on "autosomes" (see Genetics Fact Sheets 1, 2a & 2b). The mutation in these genes is "recessive". Thus, thalassaemia follows a pattern of autosomal recessive inheritance in families (see Genetics Fact Sheet 4). If a couple are both carriers of a thalassaemia mutation ie. both have thalassaemia minor, they can each either pass on their mutated gene copy or their correct gene copy to their children ( HYPERLINK "http://www.genetics.com.au/Genetics2003/FactSheets/19.asp" \l "1#1" Figure 1). As babies are mixtures of the genetic information passed from their parents, there are four possibilities for the combinations of genes inherited. There is a 1 in 4 (25%) chance that they will have a child who receives both copies of the mutant gene, one from each parent. Such a child will be affected with thalassaemia major.  HYPERLINK "http://www.genetics.com.au/Genetics2003/FactSheets/19.asp" \l "2#2" Figure 2 shows that if only one parent is a carrier, there is no chance that they will have a baby affected with thalassaemia major, but, on average, half of their children (both male and female) will be genetic mutation carriers (have thalassaemia minor) like the parents. In Figures 1 and 2, the mutated thalassaemia gene is represented by "r"; the correct copy by "R". The mutations could either be alpha or beta mutations; the inheritance pattern is the same for both forms of thalassaemia CAN GENETIC CARRIERS FOR THALASSAEMIA BE DETERMINED? A blood test can determine if an individual has thalassaemia minor and is therefore a carrier of a thalassaemia mutant gene (a genetic carrier). A person can find out the most up to date information about the condition and discuss his/her reproductive options with a genetic counsellor.  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