Options for carriers of Thalassaemia

--Beta thalassemia is the most common hereditary disease in Iran, where religious beliefs make it practically impossible to have legal therapeutic abortions. Instead there has been emphasis on identifying “both carrier” fiancés and providing genetic counselling to change their minds, and not allowing them to marry anyway.
--In the Uva Province in Sri Lanka a prevention has been suggested that is also based on prevention of marriages between carriers. This could be achieved by carrier screening and counselling of teenagers and adolescents well before they select their partners, so that risk marriages do not occur
--Another option is for couples to be screened before pregnancy. If they are both carriers they can be counselled and made aware of other options which include adopting a child or egg or sperm donation
--During early pregnancy the mother can be screened and, if she is a carrier, it is suggested that the father be tested also. If both parents are carriers – or if the baby’s father decides not to be tested – there is the choice of a diagnostic test to determine whether the baby has a disorder, which should be done as early as possible during pregnancy.
--If the baby is found to have thalassaemia the couple should then be counselled, so that they are aware of:
- The risk that Hb Bart’s hydrops syndrome not only leads to the death of the baby but may also adversely affect the mother’s health during pregnancy
- The effects that the disease will have on their child and history of disease eg life expectancy
- The cost of treatment including money, time and effects it may have on the family
- The care available for sufferers of Thalassaemia
- Support programs that exist in their community
--The parents may then choose to terminate the pregnancy, OR
--Continue the pregnancy, in which case a management plan should be created (including financial and family aspects not just treatment) so that the parents are able to care for the child with Thalassaemia and know about all of the support and help available


http://www.kier.kyoto-u.ac.jp/DP/DP562.pdf
http://taylorandfrancis.metapress.com/content/q374405t10841676/
http://www.sickle-thalassaemia.org/Alpha%20Thal.htm
http://www.scpath.com.au/scplet15.htm
http://www.indianpediatrics.net/99nov6.htm
http://www.kcl-phs.org.uk/haemscreening/Documents/PreScreeningLeafletNov2006.pdf
Lecture on Genetics Counselling from week 6