Beta Thalassaemia The Physical And Psychosocial Effects Biology Essay

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Thalassaemia is an inherited disorder in an autosomal recessive manner of blood that affects making and transporting normal haemoglobin around the body (Cao & Galanello 2010). Haemoglobin is found in red blood cells and carries oxygen to different parts of the body. The main effect of this disorder causes haemoglobin to decrease function causing anaemia. Petrou (2010) quotes "Thalassaemia is one of the most common genes in the world". Haemoglobin disorders in particular are common all around the world but mostly in populations of tropical Africa, Asia and the Mediterranean regions of the world and Thalassaemia in particular is prevalent in Mediterranean areas, the Middle East and South East of Asia and the Pacific (Petrou, 2010). Supporting Petrou (2010) is the results presented by Amendolia et al. (2002) which also found that the genetic defects are mostly common in particular areas such as Africa, the Far East and Mediterranean regions. Yang, Keam and Keating (2007) found that there are 90, 000 children born worldwide with Thalassaemia.

This lethal blood disorder is a result from variations in a single nucleotide (Martini, 2006). In his book Martini (2006) describes that mutations are changes in a cell's DNA permanently that effect the sequence of genes. A point mutation is what happens in thalassaemics and this is when there's a change in a single nucleotide and affects just one codon, this mutation then changes the structure of a completed protein by producing a codon that specifies a different amino acid and a single change in the amino acid sequence of a structural protein or enzyme can prove lethal. There are many other types of blood disorders and there are two types of Thalassaemia, Alpha (α) Thalassaemia and Beta (β) Thalassaemia. In this report β-Thalassaemia's symptoms, diagnosis and detection, physical and psychosocial effects, and treatments will be presented focusing on children in particular.

Beta (β) Thalassaemia

As found by Cao & Galanello (2010) β-Thalassaemia is characterised by the decreased synthesis of the haemoglobin subunit Beta. This change in the body results in nucleated red blood cells known as microcytic hypochromic anaemia and also limited amounts of haemoglobin A (HbA) (Cao & Galanello, 2010). β-Thalassaemia is categorised in 3 severities: Thalassaemia Minor, Thalassaemia Intermedia and Thalassaemia Major. The two which will be focused on in this report are β-Thalassaemia Intermedia and β-Thalassaemia major as they are the main phenotypes affecting the population. The symptoms and treatments vary with each severity and diagnosis of the type of Thalassaemia present determines the best treatments for each. As a quick screening to determine the presence of Thalassaemia electronic or optical cell counters are used to accurately measure red cell parameters (Han, Fung, Teo & Tam, 1990) but after this initial screen has been conducted other diagnostic tests are continued to find out which type of Thalassaemia it may be.


Diagnosing Thalassaemia relies on red blood cell indices and is the best way to determine the difference between Thalassaemia and anaemia (Cao & Galanello, 2010). As suggested previously by Cao and Galanello (2010) this diagnostic procedure reveals microcytic hypochromic anaemia which is nucleated red blood cells on a peripheral blood smear which shows abnormalities in the blood, followed by a haemoglobin analysis which will expose decreased amount of HbA and increased amounts of another type of haemoglobin which is haemoglobin F (HbF). These procedures will also show the severity of the anaemia present so that treatments can be correctly chosen to keep it under control.

To accurately detect which phenotype is present in β-Thalassaemia Cao and Galanello (2010) suggest that Molecular Genetic Testing is needed of the gene. This testing involves the analysis of DNA, through linkage analysis, sequencing or one of the many methods used in mutation detection.


As presented previously the symptoms vary with the severity of the condition. The condition varies from mild to moderate to severe. The mild condition is β-Thalassaemia minor, the moderate is β-Thalassaemia intermedia and the severe condition is β-Thalassaemia major (Sanctis, 2002). β-Thalassaemia minor is the form that shows no symptoms apart from anaemia and the person is only a carrier (Cao & Galanello, 2010). Unlike the β-Thalassaemia minor symptoms Cao and Galanello (2010) found that β-Thalassaemia intermedia and major show more severe symptoms such as fatigue, weakness pale skin, jaundice, dark urine, poor growth and poor appetite, diarrhoea, irritability, enlarging of the abdomen, leg ulcers and moderate to severe skeletal changes.

Physical Effects

Children with β-Thalassaemia experience a never ending list of complications to their body internally and externally. It is seen to be a very straining condition to the body and children suffer greatly due to no being fully developed yet. Not only does the condition itself threaten the survival of the child but treatments that occur in complications can also cause life threatening problems.

The main physical effects β-Thalassaemia has on a child's body was that they had a decreased respiratory function and exercise capacity due to the reduced ability to transport sufficient oxygen around the body, heart disease being another main complication and osteoporosis and skeletal deformities (Li et al., 2002), (Agostoni et al., 2005) and (Taher & Musullam, N.D). These three main physical effects were seen throughout a number of research articles which will be further discussed.

A study by Agostoni et al. (2005) stated that fatigue and exercise duration and capacity was greatly affected by patients suffering from anaemia specific to β-Thalassaemia intermedia. Agostoni et al. (2005) results showed that majority of the studied group was greatly affected and their exercise capacity was reduced and this was assessed by conducting an exercise program and reporting and comparing their VO2 max to a normal chart. Another study represented the same findings, that their patients respiratory functions were decreased and not to their full capacity and there was impaired oxygen delivery throughout the body (Li et al. 2002).

Li and colleagues (2002) also confirmed that abnormal pulmonary functions have been found in Thalassaemia patients, especially the younger population. Both studies above stated that transfusions can influence the oxygen carrying capacity but the difference with the two studies is that Agostoni et al. (2005) conducted the study on patients that were stable and did not need transfusions and Li et al. (2002) conducted their study on patients which were transfusion dependant. A study that found interesting results as to why lung capacity may be depleted was by Zakynthinos et al. (2001) which found iron deposition in the lungs and found could play a role as iron promotes tissue damage and can facilitate the growth of microorganisms which depend on iron for growth.

Contradicting these findings another group found limited difference in exercise output of study participants but the study did find early signs of myocardial dysfunction which was found to be iron induced (Tocco et al. 2006). Aessopos, Kati and Farmakis's (2007) research presented heart disease is one of the leading causes of mortality and a main cause in morbidity in patients with β-Thalassaemia. They also found that the main cause was iron overload as did Tocco et al.'s (2006) research and stated that this is a main complication that not only causes cardiac problems but also liver and endocrine glad complications. Aessopos, Kati and Farmakis (2007) concluded that a higher cardiac output has to be maintained due to the stiffening of the vascular bed and in turn makes the heart work more than needed and pump more blood through the body tiring the heart quicker.

Osteoporosis and skeletal deformities are seen later in the condition and cause formations of masses in places where the body cannot mechanically function properly and this is associated with ineffective erythropoiesis which worsens as the child get older (Taher & Musallam N.D).

Psychosocial Effects

Studies, in regards to psychosocial effects find different results. Some have found that the patients are more effected by the treatments (Goldbeck, Baving & Kohne, 2000) over the condition itself and others found that the condition itself is very draining to not only the patient but the family as well. Some of the many psychosocial effects β-Thalassaemia can have on children are stressfulness, inability to cope, anxiety, overwhelming, fears, depression, dependant, poor sociability and fear of separation (Goldbeck, Baving & Kohne, 2000). These psychological domains get in the way of the child's quality of life and can lead to a struggle to cope later on in life (Mazzone, Battaglia, Andreozzi, Romeo & Mazzone, 2009).

Mazzone, Battaglia, Andreozzi, Romeo and Mazzone (2009) found that this chronic illness causes a psychological burden to the children and the family around them because they need clinical treatment early on in life and these invasive procedures tend to be the main cause behind the state of the child and its family. This was also presented in Sadowski et al.'s (2002) who's results showed that as thalassaemics children need to regularly attend hospitals for clinical procedures they become more anxious and more at risk of being overwhelmed and fearing the treatments which decreases their ability to cope.

Thalassaemia patients have a variety of coping strategies. The common coping strategy that was present in two studies, Goldbeck, Baving and Kohne's (2000) study and Mazzone, Battaglia, Andreozzi, Romeo and Mazzone's (2009) study was maladaptive and indicated helplessness and anxiety. In comparison Messina et al.'s (2008) study showed a different coping strategy known as escape-avoidance and Messina et al. (2008, p. 339) quoted "patients with TM had severe psychosocial problems".

Family members also play a very important role on the psychological support of their children and help in coping with the condition. Mazzone, Battaglia, Andreozzi, Romeo and Mazzone (2009) found that psychosocial support is important and benefits with eliminating high stress levels, strengthening coping strategies, improving compliance to a specific therapy and providing better way of living with the condition and dealing with the situation.


The treatments for β-Thalassaemia vary depending on which phenotype it is. The main treatments used are blood transfusions, bone marrow transplantation, and cord blood transplantation, chelation therapy which is used to prevent iron overload, folic acid supplementation and hydroxyurea as found by Cao & Galanello (2010).

β-Thalassaemia major patients need regular blood transfusions along with inhibition of increased intestinal absorption of iron as this contributes to the iron overload resulting in complications as do β-Thalassaemia intermedia patients but they can also be monitored with folic acid supplementation (Cao & Galanello, 2010).

Transfusional iron overload is a secondary complication from an initial treatment and chelation therapy is needed to correct the problem. An iron chelating agent know as deferasirox is administered to patients and this is seen to decrease the cardiac iron levels returning the levels normal and keeping them stable for a period of up to 5 years (Ruffo et al., 2010). Yang, Keam and Keating (2007) suggest a dose of 20-30 mg/kg/day is needed for a beneficial effect on the patient and is found to be a useful treatment option in the controlling of transfusional iron overload.

Bone marrow transplantation, Cao and Galanello (2010) found can be conducted eliminating the need to do regular transfusions and also decrease the results of iron overload but this therapy has its complications as there needs to be a suitable donor and the child needs to have specific pre-transplantation clinical conditions so that the outcome is a disease free survival. Although complication can occur if the treatment is not conducted correctly following the correct procedure Sanctis (2002) also states that bone marrow transplantation is a well- recognised treatment for this critical condition.

Cao and Galanello (2010) suggest that cord blood transplantation offers a successful cure but once again a relative donor is needed for the transplantation to be successful.

Treatments for this condition greatly vary as seen and need to be assessed regularly if they are to help the condition. If the treatments are not monitored and followed up they will lead to further complications. Some main monitoring steps presented by Cao and Galanello (2010) are conducting monthly physical examinations, conducting liver function tests, checking serum ferritin concentrations and assessing growth and development as a child needs to be closely followed.


To conclude β-Thalassaemia is a life-long condition that needs to be monitored. As it is uncovered in childhood and the family needs to understand how to manage and maintain coping with this condition. Treatment needs to be regularly conducted and followed up as there are a range of complications that can for after treatment/therapy is over. This condition affects a wide range of people world-wide and is growing and for this reason needs to be understood completely by both the affected person and the surrounding friends and family.