What are the common symptoms in the region? The most important?
For a person who is affected with Thalassemia, the most common presenting signs and symptoms are natural exhaustion and breathlessness upon minimal exertion, stunted growth and lack of the pink, healthy color due to Anaemia (Anaemia is low Haemoglobin which is a protein that is found in red blood cells). Children affected with Thalassemia are seen to tire out very quickly and aren’t able to take part in activities like their peers, and they too show signs of abnormal and slow growth.
What are the causes of thalassemia?
Thalassemia is a condition which is caused by a genetic defect in the gene which codes for Haemoglobin (Hb). He is a protein that occurs in human red blood cells and is responsible for carrying Oxygen from the lungs to the rest of the body’s tissues and muscles. If the gene coding for Hb is defective, then the resulting Hb formed is abnormal. This, in turn, reduces the Oxygen-carrying capacity of the Hb protein and so the body’s tissues and muscles get lower Oxygen than what they require. As a result, they tire out quickly and quicker.
This defective gene runs found in higher concentration in people of the Gulf Arab region. Add to this the fact that marriages between cousins and within families are common in the Arabian peninsula and so there are higher chances of the offspring children being affected. Parents who are carriers themselves tend to be unaffected and usually live normal healthy lives with the only abnormality being a slightly low Hb value (Anaemia). But if these carrier parents marry, then they have a 25% chance of having an affected child. Sadly, having an affected child is usually the first sign to the parents that they carry the gene for this disease which is why Government policy today has become so strict to ensure parents are screened before marrying.
How are classified as types of thalassemia? What are the complications that afflict the patient Thalassemia?
The broad classifications of the types of Thalassemia as a disease are Alpha, Beta, and Delta. In the Arabian peninsula, Beta Thalassemia is the most commonly occurring primarily in the Gulf Arab region, i.e., Saudia Arabia, UAE, Kuwait, Qatar, Bahrain, and Oman.
In Beta Thalassemia, the classification is ‘carrier’ and ‘affected.’ If an individual carries one defective gene, then he/she is termed a carrier. If an individual has two defective genes (one from the father and one from the mother), then he/she is affected. As a carrier, symptoms are minimal, and carrier individuals live a mostly normal, healthy life. An affected individual has much more severe symptoms and manifestations.
Complications that an affected individual faces include, bone deformities, vulnerability, and susceptibility to multiple infections and spleen enlargement. Affected children have delayed puberty and heart problems like heart failure and arrhythmias (irregular heart rhythm).
In this case, what is the ratio of the problems in pregnancy and how to deal with the situation?
If the mother is a carrier, then the pregnancy is affected by the fact that the mother has low Hb. If the mother herself has slightly less than usual Hb, then it translate into that the mother’s tissues and muscles receive slightly lower Oxygen. Because of that, the Oxygen that the fetus in-utero receives is also lower than that which it would have usually received had the mother not been a Thalassemia carrier. Mothers who are affected or are carriers are required to take a higher dose of Folic Acid during their pregnancy; 5mg as opposed to the normal 0.4mg.
Because of this low Oxygen, the fetus receives the growing baby suffers from Intra-Uterine Growth Retardation (IUGR) where its growth and development suffers and is stunted. Spina Bifida is another abnormality seen in fetuses of a thalassemia carrier/affected mother. In this, a section of the spinal cord of the fetus remains open due to incomplete development.
As mentioned before, there are different types of Thalassemia (Alpha, Beta, Delta) and sometimes conceiving a child is hampered as a result of the disease. These parents then need to go in for Infertility treatment (Best fertility doctor in Dubai).
What is the type of treatment to be applied to women and men, especially if they want to start a family?
For couples who wish to conceive it is vital that screening is done to assess whether the individual is a carrier or affected or Thalassemia-free. Depending on whether an individual is a carrier or changed, he/she and their respective partner will need to be counseled, and risk assessment needs to be done to determine the probability of the resulting child being born is a carrier or affected. If both parents are carriers, then there is a 25% chance that the resulting child conceived will be harmed. The couple needs to be made aware of such risks, and then different management options need to be discussed on how to proceed further.
How can co-exist with the disease? What are the best methods of prevention?
Most carriers of Beta Thalassemia live a fairly unaffected, uncomplicated and healthy life. There may be some minor constraints of having low Hb, but otherwise, overall they’re ok.
Children who are affected with Beta Thalassemia have a different plight of course. They will require to be consistent and continuous care from a specialist Haematologist. Management of affected Beta Thalassemia involves blood and bone marrow transfusions and treatment for the infections they have a susceptibility to.
From an Infertility Medicine point of view, Thalassemia can ultimately be prevented by a groundbreaking procedure called Pre-implantation Genetic Diagnosis (PGD). In PGD, from an 8-cell embryo, one cell is taken and studied under the microscope in a laboratory. If the fetus has the defective Thalassemia gene, then this embryo is NOT put back into the mother’s uterus. This way the embryos from Assisted Reproductive Medical Techniques are screened and pregnancy of a carrier or affected child are entirely prevented.
Similarly, PGD is used to create a ‘saviour sibling.’ What this means is, if a couple have a child that is affected by Thalassemia they can use PGD to study the embryos of their potential next child, find an embryo who’s genetic make-up matches that of their previous affected child and give birth to a child who’s bone marrow can be transfused to the older sibling and save his/her life from Thalassemia. These children are termed “savior siblings.”
Is there a way to maintain the treatment of the fetus during carrying especially between two people injured with Thalassemia?
If either of the parents is carriers and are affected, there is a risk of the resulting fetus being a carrier or affected by Thalassemia too. Through procedures like Chorionic Villus Sampling and Amniocentesis, the fetus can be studied for it carries or is affected by the disease. If the fetus is just a carrier, then nothing needs to be done to treat it in-utero apart from monitoring the mother and baby closely during her pregnancy.
PGD, of course, can completely prevent this disease in the child. It can also be used to procure ‘saviour siblings’ as described before. PGD has been revolutionary in that it has helped in nearly eliminating the sad management of pregnancy termination of affected fetuses.
Are there medical methods used in this situation? Such as IVF and others? What techniques and methods that are used to configure the fetus in this case?
As stated before Pre-implantation Genetic Diagnosis has been instrumental in the prevention of Thalassemia. This has empowered couples in which either or both are affected or carriers to have completely healthy babies free of Thalassemia without having to undergo the trauma of pregnancy termination. By performing PGD screening, the defective Thalassemia gene is stopped with the parents and continuity to the next generation is eliminated.
The same PGD has been life-saving through ‘saviour siblings.’ This process ensures that for the affected child, the sibling provides an almost perfect match for bone-marrow transfusions thereby reducing the problems and complications that arise from imperfect games.
Can you add information to our readers to learn solutions to give birth in such a situation?
Gulf Arabs MUST be aware and educate themselves about Thalassemia and its widespread prevalence in the region. They must get themselves screened before marriage most especially if they are marrying individuals whom they are genetically related to i.e., from their own family (both near and distant).
If individuals are found to be carriers of the disease, then they must visit an infertility specialist (Best Fertility Clinic in Dubai) to receive counseling and advice on how to proceed with infertility techniques to ensure their offspring are neither carriers nor affected.