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Cappellini MD, Cohen A, Eleftheriou A, et al. Guidelines for the Clinical Management of Thalassaemia [Internet]. 2nd Revised edition. Nicosia (CY): Thalassaemia International Federation; 2008.
If the disease is fully compensated by ideal treatment, an individual with thalassaemia major can enjoy a near-normal lifestyle and experience regular physical and emotional development from childhood to adulthood, including parenthood.
Treating staff should promote such a progression by trying to reduce as far as possible the degree to which the disease interferes with the patient’s personal and social life. Where the disease cannot be fully compensated with proper transfusional schemes, the obstacles to a normal lifestyle should be taken into account with a realistic but positive approach, based on informing and encouraging the patient, and reviewing limitations on time and treatment schedule.
From a practical point of view, treating staff should:
The patient should have the right to decide if, when and with whom to talk about the disease.
This right should be considered before other points of view (i.e. those of parents, relatives, school, hospital and official bodies).
Staff should:
If the patient’s haemoglobin levels are maintained close to the values recommended in this book, no relevant interference with academic performance should be seen. Where the haemoglobin level is allowed to fall too low, the patient may have difficulty in school. However, individual variability is wide.
Although normal transfusion and follow up schedules many require a number of absences, these should not be to the extent where the patients’ school performance is negatively affected.
Splenectomised patients should be warned about the risk of having pets at home, due to the possibility of bites and this increased risk of septicaemia (Capnocytophaga canimorsus-associated). Additional care in preventive measures may be required in some areas due to specific infection risk (see the example of Pythiosis in Thailand in Chapter on Infections). Patients with active viral hepatitis or other viral infections should take general measures to minimize or prevent the risk of transmission to the family.
In general, it is important for patients to have a positive attitude towards their ability to work.
In chronic diseases a shift to overprotection is a frequent problem for all people involved (parents, treating staff, patient association and patients themselves). This may be partially useful when treatment possibilities are scarce and the physical conditions of the patient are poor. However, well-treated patients generally do not face difficulties in performing work as a direct result of their disease.
Depending on the country, thalassaemia may be recognised as causing a certain degree of disability, with resulting benefits and special employment facilities. While these may help the family and the patient from a practical viewpoint, care should be taken that these entitlements do not interfere with a positive attitude to normality, self-esteem and the ability to work (see Chapter 15: Psychological Support in Thalassaemia).
Symptomatic heart disease and osteoporosis may cause difficulties for patients in performing certain physical tasks and specific advice in limiting at-risk activities should be provided.
Differences in appearance (facial features, height, and skin colour) may affect self-confidence and participation in social life. In adolescence, the absence or delay of sexual development is regarded by patients as particularly stigmatising. Timely optimal treatment of hypogonadism limits these effects. Carriers of a viral infection must also address additional uncertainties as regards safe sexual behaviour.
The general improvement in the health of patients with thalassaemia, particularly in industrilized high income (HDI) countries, means it is now possible for them to have children spontaneously or by induction of pregnancy. Patient attitudes to parenthood may range from unnecessary feelings of psychophysical inadequacy to an underestimation of the risks and difficulties involved. Treating staff should help the patient and his/her partner to achieve a balanced position. The decision as to whether to induce pregnancy medically can be difficult, and the patient’s and partner’s expectations, the risks of pregnancy and the long-term prognosis of the patient must be seriously taken into consideration. Exhaustive counselling is necessary to explore these issues in a sensitive but thorough manner.
There is no reason for patients with thalassaemia to skip or delay standard recommended vaccinations.
Additional vaccinations for patients with thalassaemia are discussed in the Chapter on Infections.
Patients who are untransfused, under-transfused or who begin transfusion at a later stage in the disease may have some malformations of the facial bones due to marrow expansion. This can affect growth of the teeth and cause malocclusion. Orthodontic care may be successful in improving masticatory function and/or correcting unaesthetic dental appearances. Orthodontic schedule must take account of the peculiar characteristics of bone disease in thalassaemia in order, to prevent tooth instability or loss. The degree of osteoporosis of maxillary bone should guide the treatment schedule.
Travel carries a degree of risk, which increases if the patient cannot receive expert local treatment. If a patient is travelling to a remote country, it is vital that adequate travel insurance is obtained so that if serious complications develop, s/he can be flown home immediately, with provision of any necessary medical assistance. If the patient plans a trip, treating staff should, as far as possible, give information about the closest hospital with services and experience in the management of thalassaemia. As for any traveller, detailed advice about infection risks in the country to be visited should be obtained, and appropriate vaccination and prophylaxis obtained in advance. Particular attention should be paid to the prevalence of malaria (see below).
Ideally, a patient should always receive blood transfusions at the same place. Travel plans should be coordinated with the patient’s transfusion schedule, in order to avoid receiving transfusions elsewhere, particularly if visiting areas where blood supplies carry a high risk of infection.
Travelling and holidays should be organised so as not to interfere with regular chelation and treating staff should not indulge the ‘poor guy’ attitude. However, requests to comply with adjustments in the chelation schedule to minimise interruptions must also take into account some practical aspects (e.g. an adolescent planning the first camp holidays with peers), and relational aspects (i.e. secrecy or open communication about the disease).
The splenectomised patient should always travel with antibiotics, to assure prompt medication in case of fever, sepsis or animal bites. Treating staff should discourage travel where the risk of malaria is significant, as this disease may be more serious in splenectomised subjects.
Patients with thalassaemia do not have specific dietary requirements, unless they have special prescriptions. In general, a restrictive diet is easy to be prescribed but difficult to be maintained over the long term. In thalassaemia, the patient already has a heavy treatment schedule and it is counterproductive to add further restrictions without the likelihood of clear benefit.
During growth, a normal energy intake with normal fat and sugar content is recommended. During adolescence and adult life, a diet low in highly refined carbohydrates (sugar, soft drinks, snacks) may be useful in preventing or delaying the onset of impaired glucose tolerance or diabetes.
There is no clear evidence that a diet is beneficial in preventing or managing liver disease, unless at late stages.
Increased iron absorption from the intestinal tract is characteristic of thalassaemia. The amount depends on the degree of erythropoiesis, the haemoglobin level and other potential independent factors. Drinking a glass of black tea with meals reduces iron absorption from food, particularly in thalassaemia intermedia (de Alarcon, 1979). However, there is no evidence that iron-poor diets are useful in thalassaemia major; only foods very rich in iron (such as liver and some ‘health drinks’ or health vitamin cocktails) should be avoided. Patients with thalassaemia should never be given iron supplements. Many baby foods, breakfast cereals and multivitamin preparations contain added iron, along with other vitamin supplements. The patient should therefore make a habit of reading labels carefully, seeking expert advice if necessary.
Many factors in thalassaemia promote calcium depletion. A diet containing adequate calcium (e.g. milk, cheese, dairy products and kale) is always recommended.
However, nephrolithiasis is seen in some adults with thalassaemia major, and calcium supplements should not be given unless there is a clear indication, instead a low oxalate diet should be considered.
Vitamin D may also be required to stabilise calcium balance, particularly if hypoparathyroidism is present. In case of liver disease, the activated form should be preferred. However, if supplements are used, careful monitoring is required in order to prevent toxicity.
Patients with thalassaemia should not take additional calcium or vitamin D unless prescribed by their medical practitioner.
Patients with thalassaemia who remain untransfused or are on low transfusion regimens have increased folate consumption and may develop a relative folate deficiency. Supplements (1mg/day) may be given if this occurs. Patients on high transfusion regimens rarely develop this condition, and usually have no need for supplements.
Iron overload causes vitamin C to be oxidised at an increased rate, leading to vitamin C deficiency in some patients. Vitamin C may increase the ‘chelatable iron’ available in the body, thus increasing the efficacy of chelation with desferrioxamine. However, there is currently no evidence supporting the use of vitamin C supplements in patients on deferiprone, deferasirox or combination treatment. Indeed, vitamin C ingestion may increase iron absorption from the gut, labile iron and hence iron toxicity. Therefore, supplements should only be considered for patients on desferrioxamine (see Chapter on Iron Overload).
Some drugs, such as aspirin and throat lozenges, as well as certain ‘health foods’, may contain vitamin C and should be avoided. A diet rich in fresh fruits, including citrus fruits and vegetables, is recommended.
Vitamin E requirement is high in thalassaemia. Treating staff should recommend a regular intake of vegetable oils as part of a balanced diet. However, the effectiveness and safety of vitamin E supplementation in thalassaemia major has not been formally assessed and it is not possible to give recommendations about its use at this time.
Zinc deficiency may occur during chelation, depending on the chelator, dose and duration. Zinc supplementation requires close monitoring.
Patients with thalassaemia should be discouraged from consuming alcohol, as it can facilitate the oxidative damage of iron and aggravates the effect of HBV and HCV on liver tissue. Where all three factors are present, the probability of developing cirrhosis and hepatocarcinoma is significantly raised. Excessive alcohol consumption also results in decreased bone formation and is a risk factor for osteoporosis. In addition, alcoholic drinks may have unexpected interactions with medication.
Cigarette smoking may directly affect bone remodelling which is associated with osteoporosis and is related to adverse effects on the general health.
In many countries, drug abuse is common among adolescents and young adults. For an individual with a chronic disease, drug abuse can be a serious threat to an already challenging condition, upsetting the delicate balance of factors affecting physical and mental health. Treating staff should aim to help the patient maintain such a position, bearing in mind the challenges an adolescent patient is likely to face. A key danger is that—as with many adolescents—drug abuse may be seen as a compensatory way to be popular among peers or to ‘fit in’. For young people with thalassaemia, feelings of dependence, difference and anxiety can push patients to seek ‘normality’ through an abuse habit.
A transparent discussion of these issues may help the patient to gain insight into the associated risks.
In general, physical activity must always be encouraged in patients with a chronic disease. Patients with thalassaemia should have a quality of life and range of life experiences as much like those of others as possible. There is no reason to prevent patients from engaging in physical activity to the limits of what they are capable of and interested in doing, unless there is a precise secondary medical condition.
Conditions requiring special attention include:
No special attention is needed. In some countries, the presence of diabetes mellitus requires special checks and limitations.
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