Care and mobility considerations

Mild functional restrictions

People in the following categories are likely to have few or no functional restrictions:-

• Adults with mild asymptomatic anaemia due to Thalassaemia minor variants, have no functional restrictions. They are able to lead normal lives, care for themselves and walk without problem.
• People with Thalassaemia intermedia who have mild to moderate anaemia (haemoglobin in range 8 -11 g/dl). The body adapts to this degree of anaemia and the person is not usually fatigued, debilitated or short of breath. They are unlikely to have any functional restrictions and have no care or mobility needs.
• Some adults with successfully treated beta-Thalassaemiamajor and no substantial complications may have few or minor functional restrictions only. Although they may require regular blood transfusions on a 3 – 4 weekly basis their haemoglobin is maintained within the range 9.5 – 11 g/dl. They are able to function normally for the majority of the time, even in the week prior to transfusion, and are able to care for themselves fully and walk without problem. Someone with an additional problem such as mild asthma will cope less well with the drop in haemoglobin and is more likely to be in the moderate functional restrictions group.

Moderate functional restrictions

Moderate to severe anaemia (Hb 8 g/dl or less) in a person with Thalassaemia intermedia may cause functional restriction on a day-to-day basis. They may be persistently fatigued and short of breath on exertion, and require some help with dressing, bathing and preparation of food. Walking may be limited due to both fatigue and shortness of breath.

The following complications of long-term anaemia and iron overload in adults may cause moderate functional restrictions in people classified in the intermediate and major groupings. The ability to self-care and to walk may be affected by these medical conditions, either singly or in combination, and will be exacerbated by fatigue and shortness of breath.

• heart failure and dysrhythmias (dysrhythmia is often a cause of death)
• limb deformities, arthritic joints, osteoporosis
• abnormal liver function, liver failure, cirrhosis
• long term leg ulceration
• pulmonary hypertension
• diabetic complications
• hepatitis C

Please see relevant guidance for further information on these medical conditions.

Severe functional restrictions

The most severe functional restrictions are likely to be found in individuals who have not been treated adequately in childhood. Such individuals will have failed to grow and develop normally, will be short with longer limbs in proportion to the spine and abnormally shaped heads (typically described as a chipmunk facies). The latter may lead to deafness. They are likely to have heart disease, of those patients who are in inadequately treated 55% will have died by age 35.

Adults with severe iron overload may also have severe functional restrictions due to heart failure, liver failure and diabetic complications – see relevant guidance. The most severe problem is heart failure which will require 24 hour infusion treatment, often using a portacath. Heart failure is commonly so severe that they are unable to walk up stairs and dysrhythmias further limit exercise tolerance when they occur. Ejection fraction is commonly monitored regularly in these cases, information on this test is available in the heart failure guidance.

Neuropathy and ulceration of the lower limbs is common and is likely to limit mobility in those patients with Thalassaemia intermedia.

People with these problems are likely to need help with all aspects of self-care and are likely to be restricted in their walking.

Amended May 2009