Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases

Table 1 Biochemical and clinical monitoring of Thalassaaemia major patients

Determination of thalassaemia mutation and blood group (ABO, rhesus)

Vaccination: Flu, pneumonia, haemophilous influenza, meningitis a + c and hepatitis B

Cardiac: Physical examination, echocardiography, holter, stress test, muga scan, (once a year or earlier if required)

Liver and kidney function tests, urate, cholesterol, triglycerides, Ca, PO4, fasting glucose test and prothrombin time (every six months)

Blood glucose tolerance test and screening for hepatitis B antibodies, hepatitis C and HIV (every year)

Bone densitometry, chest X-ray, Endocrine (T3, T4, TSH, PTH), ophthalmology, ear, nose, throat and echo of the abdomen examination (every year)

Iron load estimation: Serum ferritin and Zn (every 3-4 mo), serum ferritin for patients with normal physiological iron range (every month), MRI T2 and T2* of the heart and liver (once a year)

Full blood count (every 1-1.5 wk for those treated with L1 and L1/DF combination)

Supporting specialist therapy team: Cardiologist, endocrinologist, haematologist, paediatrician, dietician, gynaecologist, psychologist. Other clinical faculties if required

The table was adapted from ref. [9]. HIV: Human immunodeficiency virus; MRI: Magnetic resonance imaging; DF: Deferoxamine; TSH: Thyroid-stimulating hormone; PTH: Parathyroid hormone.