Psychology is the scientific study of human behaviour and has been divided into many fields such as clinical, industrial, forensic, neurological etc. with the development of the world and modern inventions related to the psychology field. Similarly, Genetic Counseling has become a significant aspect that has been widely evolving in the society nowadays in order to have a healthy human generation. According to the definition from World Health Organization (WHO), genetic counseling is the process of advising about the illnesses in terms of genetics and predicting the risk of either having a heritable disorder or conveying it on to their unborn generations. Furthermore, genetic counselors provide clinical health care, awareness, and emotional support etc. to individuals and families experiencing genetic and inherited issues.
Generally, Biological inheritance can be defined as the process of acquiring characteristics of its parental cells or organisms and Genetics is the study of Biological inheritance (Saha, n.d.). Genetic disorders are caused by mutation of a gene and such genes can be passed generation to generation. The probability of having a genetically mutated child significantly depends upon the pattern of inheritance, so it is very crucial being able to predict how next generation would be like and what kind of disorders the generations are vulnerable to have.
Scientists have discovered that genes automatically identify how to work and changes or mutations can influence on work procedures of genes. However, in most cases, those influences are insignificant and do not affect on processes of gene, which is defined as single nucleotide polymorphisms (SNPs) / gene variants. On the other hand, some changes are critical. They change the work processes of gene, which is defined as mutations and increase possibilities of having genetic disorders. (Genetic Alliance, 2009).
The nucleus of every human cell contains 23 pairs of chromosomes (46 chromosomes). And also, each pair contains of one chromosome from the father and one from the mother. There are 22 pairs of autosomal chromosomes know as non-sex chromosomes (x-x) and one pair of allosome chromosomes known as sex chromosomes (x-y) (Finegold, 2017). The different forms of a gene which are found at a specific variant along a selected chromosome are called alleles. The inheritance patterns depend upon the facts that where the allele is found either on an autosomal chromosome or a allosome chromosome, and on dominance or recessiveness of allele.
Dominant mutations take place when it is presence of a mutated copy. As a result of that, anyone who inherits one dominant disease mutation is vulnerable and gets the disease and also majorly inherited genetic diseases convey lineage to a lineage of a family. An affected parent is always linked to an affected person. Autosomal Dominant takes place when there is an affected parent and conveys within each generation. As examples, diseases such as Huntingtons disease, Neurofibromatosis, Achondroplasia and Familial Hypercholesterolemia can be mentioned. In X-linked Dominant, females are more prone to get the mutation since it transmits an affected man to his daughters not to sons. But if the mother is affected, this mutation can affect on both sons and daughters in the same generation. The diseases such as Hypophatemic rickets (vitamin Dresistant rickets), Ornithine Transcarbamylase Deficiency can be stated as examples. However, these dominant mutations can also occur in humans for the first time, even though there was no evidence of family history of the condition, which is known as spontaneous mutation.
The requirement for Recessive mutations is having two mutated copies for disease to take place and significantly, this condition cannot be seen in every generation of an affected family like dominant mutations. Generally, the father and the mother of an affected individual are called carriers since they are unaffected but they are still able to convey the condition because of the copy of a mutated gene they have. Autosomal Recessive takes place when both parents are carriers of an affected person. Diseases such as Cystic fibrosis, Tay-Sachs disease, Sickle cell anemia and Phenylketonuria (PKU) are examples for Autosomal Recessive Inheritance Pattern. In X-linked Recessive, Male individuals are more prone to be affected and their presence can be noticed in each generation very often. Diseases such as Hemophilia A and Duchene muscular dystrophy are examples for X-linked Recessive Inheritance Pattern. The child will be affected if both parents carry the same mutated gene and both convey it to the child.
In Inheritance Pattern Mitochondrial, mutation can affect both genders. Even though, mutation is only transmitted by females since mitochondria of all generations conveys from mother. This mutation can be present in every generation. Diseases such as Kearns-Sayre syndrome and Lebers hereditary optic neuropathy can be considered as instances.
Thalassemia is a very common monogenic disorder; approximately 70,000 new patients are reported per a year around the world. Some regions such as the Mediterranean region across sub-Saharan Africa and Middle East to South and South East Asia in the world have been identified as countries which are in thalassemia belt based on the frequent prevalence of this disease. According to a recent study, Thalassemia in Sri Lanka is significantly high when it is compared to other countries because the study has identified an amount of 2000 patients with severe Thalassemia and around 80 new infected children are born in every year (Mettananda, 2018).
Thalassemia is an inherited blood disorder that is caused by inability of human body to produce/ lack of the protein called hemoglobin which is a very crucial part in a red blood cell. Due to the fact there is not sufficient hemoglobin, red blood cells do not function properly and remain a very short time, so blood flow becomes it is lack of healthy blood cells. Basically, red blood cells convey oxygen to every cell in human body. Cells cannot function properly if there is no oxygen they need. Therefore, there is not sufficient oxygen for other cells of the body since there are not enough red blood cells. As a result of those issues, individuals with thalassemia have to experience many difficulties such as fatigue, hard to breath etc. and could lead to death finally.
Mainly, there are two types of Thalassemia. 1. Alpha thalassemia occurs when the body is unable to maintain the synthesis of the alpha globin chains which are placed on chromosome, involvement of the gene called HbA1 and HbA2. Alpha thalassemia can also be divided into two more parts which are alpha thalassemia major and hemoglobin H disease. Alpha thalassemia major is diagnosed as a critical condition since it can take place even before the child is born. Therefore, in most cases, affected babies can either be dead during the pregnancy or have a very short life time after birth. Hemoglobin H disease is not as serious as Alpha thalassemia major condition and do not even need transfusion therapy. Even though, individuals with Hemoglobin H disease can have bone issues and structural abnormalities of organs (Shirzadfar et al., 2018). 2. Beta thalassemia is the most common type of thalassemia and takes place due to the changes in gene because of the beta globin component of hemoglobin as a result of either it to be missing or destroyed. This is also divided into two parts: thalassemia major (Cooleys anemia) and thalassemia intermedia. Beta thalassemia major is the most serious condition of Beta thalassemia. It can be identified in the early stages of a childs life and lasts throughout life time. This can be life threatening since it can lead to a severe anemia. Serious fatigue, paleness, heart problems, abnormalities of liver / spleen and developmental issues are some of its major symptoms (Shirzadfar et al., 2018). Thalassemia intermedia is not as critical as beta major thalassemia and affected people can even survive without blood transfusions. Poor appetite, fussiness, paleness and fatigue are some symptoms of Thalassemia intermedia (Holm & Cherney, 2017).
In the modern world there are various developed scientific methods that are used for diagnosis of illnesses. Thalassemia is often diagnosed at the early stages of development of a child. Various blood tests are used in order to diagnose thalassemia. Generally, Hemoglobin electrophoresis test is used to diagnose beta thalassemia while Genetic testing is used for the diagnosis of alpha thalassemia. In The test Complete blood count (CBC), it basically measures the hemoglobin level and quantity of red blood cells. Being based on the fact that alpha or beta thalassemia causes to have very smaller amount of red blood cells, CBC can diagnose the issue. The test reticulocyte count measures the quantities of young red blood cells and refers to the fact that whether bone marrow produces sufficient amount of red blood cells. And also, iron tests can identify whether anemia is caused by thalassemia or iron deficiency which is not a serious illness. ( Cleveland Clinic, 2018)
According to NCH (National Health Service of UK) Thalassemia patients are supposed to be looked after with a special care in their whole life time. In many countries, there are support centers for thalassemia patients. When it is talking about the treatments, there are major types of treatment methods for thalassemia. Blood transfusion is one of world famous method which is taken place in order to treat and terminate anemia and the frequency to be done depends on patients diagnosed condition. On the other hand, chelation therapy therapy is conducted in order to remove extra amount of iron accumulated in body due to frequent blood transfusions. But some thalassemia patients bodies tend to accumulate excessive amounts of iron even without such treatments and it is also needed to be treated and can be treated by chelation therapy. Specialists declare that healthy life style helps body to maintain conditions. There are only few limited treatments such bone marrow transplant in order to get rid of thalassemia and rarely done since the risk is critical.
Unfortunately, most people who expect to be parents do not come forward to have the aid of clinical tests carried out in order to reveal abnormalities of biological aspects. Most specifically, they do not pay their attention to genetic tests because they think that they are physically healthy and maybe due to lack of awareness/ knowledge and finally end up having an ill baby that they never even expected that it is possible their child can be unfortunate that much. Things could have been changed if parents thought of how they can have a healthy kid.
According to a study Thalassemia Prevention in Sri Lanka by Dr Rasnayaka M Mudiyanse, Consultant Pediatrician and Senior Lecturer, has stated two major ideologies in order to prevent Thalassemia in Sri Lanka. 1. Avoiding High Risk Marriages which means both parents are carriers and 2. Promoting Safe Marriages which means one of partners is not a carrier.