This disease is usually genetical and hence it’s inherited by a patient; therefore best approach to the management of thalassemia mainly includes the attempts at somatic cell gene therapy and stimulation of fetal haemoglobin synthesis which entails screening a carrier while pregnant. Therefore in the forum, this information was found on their homepage.
This website was originally a forum about a condition called thalassemia and other haemoglobinopathies and disorders such as sickle cell disease and acute anaemia.
Normally, thalassemia and these other disorders poses abnormal haemoglobin and thus symptomatic patients with the diseases have no definite cure and only supportive care and management is possible. Hence the forum was used to help various patients with tips about weight loss, (as that’s what it may lead to), as well as managing the diseases.
It should be noted however that a limited number of patients with thalassemia could be cured through bone marrow transplantation, which is also associated with breast cancer, from HLA-identical donors and hence the forum also was used to help patients meet such donors and suggest the best ways to get treatment for them.
The forum was in operation from 2006 to sometime in the year of 2012. I’d however like to discuss and shed light about the disease myself since I’m a medical student and have some knowledge about the management of such diseases.
Therefore, this site now includes such content which could help these patients. There are various posts about people suffering with the condition and they are worthy taking a look. You can access them by clicking through various categories below…
The choices available for an “at-risk” couple: Prenatal Testing
Where a woman carrying the thalassaemia trait is considering having a child or is already pregnant, her partner (if not aware of his carrier status) should be tested at once to find out if he also has the thalassaemia trait. If they are both carriers, the couple may decide to proceed with planning a family or, if already pregnant, may consider continue the pregnancy and where this is possible, to proceed with testing the foetus for thalassaemia, possibly deciding to terminate pregnancy if the foetus is affected. Other choices considered by “at-risk” couples include separation, adopting, proceeding to invitro fertilization.
Testing a foetus for thalassaemia
There are three types of tests that can determine whether an unborn child has thalassaemia:
(i) Amniocentesis: Amniocentesis is performed in the second trimester of pregnancy, after about 15 (18-22) weeks’ gestation. Using ultrasound as a guide, a trained obstetrician inserts a very thin needle through the mother’s abdomen to withdraw 2-3 tablespoons of amniotic fluid. The foetal cells (cells from the unborn child) present in the fluid are then analysed in the laboratory to determine whether the foetus has thalassaemia.
This test is used when the pregnancy is far advanced. It poses no significant risk to the mother. However, the test may cause a miscarriage — from a few days to a few weeks after the test.
(ii) Cordocentesis Under ultrasound guidance, a fine needle is inserted through the abdomen into the foetal unbilical cord. About 2-3 ml of blood is aspirated and foetal blood is separated out in the laboratory. In skilled hands 100% pure foetal cells are obtained from the first attempt in the majority of cases. Causes of failure in obtaining pure foetal blood include early gestational age, less than 18 weeks, maternal obesity and poste rior placenta. Early gestational age is also the most important cause of occurance of serious complications in cordocentesis.
Globin chain separation with gel electrophoresis is the usual laboratory method of detection. Early and specific diagnosis by molecular methods has almost completely replaced cordocentesis which is now mainly indicated only in pregnant patients who report late, in those in whom CVS is inconclusive and when previous studies of at risk couples are not available.
(iii) Chorionic Villus Sampling (CVS) CVS can be performed somewhat earlier than amniocentesis, at about 10-11 weeks’ gestation.
The cells are removed either by a thin needle inserted through the mother’s abdomen (transabdominal) or a thin catheter inserted through the vagina (transcervical). The cells are then analysed and a diagnosis made.
As with amniocentesis CVS poses no significant risk to the mother. However, there is again a small risk of a miscarriage. If a miscarriage does occur, it can be difficult to know whether it was due to CVS, because many miscarriages happen naturally at around 12 weeks of pregnancy.
There may be an increased risk of the baby’s limbs being malformed if CVS is done very early in pregnancy – i.e. before the 8th week after the last menstrual period. However, there is no evidence of an increased risk of any malformation when CVS is carried out after the beginning of the 9th week after the last menstrual period. This is why the procedure is generally carried out after the beginning of the 10th week after the last period.
How genetic testing works
Amniocentesis and CVS are both based on DNA testing and involve identifying or excluding the genetic abnormality (mutation) present in parents — the most accurate means of diagnosing inherited diseases. However, as with all tests, there is a possibility of error, albeit a very small one.
The genes for the characteristics we inherit, including haemoglobin, are made of DNA. Every tissue in the body, including a baby’s placenta, contains a person’s entire DNA pattern. In the case of CVS, for example, laboratory scientists study the haemoglobin genes contained in the DNA of cells from the chorionic villi to see if the baby will be normal, a thalassaemia carrier or will have thalassaemia major. Analysis of the sample usually takes about a week.
Extremely important: Even at these stages decisions have been taken by the couple to continue with the pregnancy accepting the lifelong treatment of the affected child. If pregnancy termination is the choice, however, this is done in one of the two ways, depending on the stage of the pregnancy.
Early terminations can be carried out when a woman is less than 14 weeks pregnant. The couple should be informed that termination does not reduce the woman’s chance of having another baby. However, it should also be explained that each pregnancy conceived by an at-risk couple carries the same risk of producing an affected child. If the couple wishes to know whether any subsequent babies conceived carry thalassaemia, prenatal diagnosis will have to be carried out again.
The procedure for terminating a pregnancy at over 14 weeks involves inducing labor by introducing hormones (prostaglandin) into the womb. The labor may last for several hours and the procedure is much more upsetting for the woman than an early termination. Again, this type of termination does not affect the woman’s ability to become pregnant again.
Prenatal diagnosis and the termination of pregnancy are controversial. Unfortunately, however, prevention cannot rely on the identification of carriers alone and screening cannot be effective and successful in the absence of prenatal diagnosis and pregnancy termination. Other methods of prevention are being developed, such as analysis of foetal cells in the mother’s blood. This however has limitations and cannot offer to-date a reliable alternative to classical prenatal testing. Another technique is pre-implantation genetic diagnosis (PGD), which involves the use of DNA technology to select a healthy egg from a woman carrier to be fertilised in the laboratory and then introduced into the womb. PGD may prove more acceptable to those populations opposed to the termination of pregnancy, and may thus become more widely used once the technique becomes less costly and less technologically demanding.
- Thalassaemia International Federation Website: http://www.thalassaemia.org.cy/