Sickle Cell and Other Haemoglobinopathies

Haemoglobinopathies are inherited disorders with an abnormal production or structure of the haemoglobin molecule. The two main disorders included in this chapter are sickle cell disease (SCD) also known as sickle cell anaemia, where two copies of an altered haemoglobin gene are inherited (one from each parent), causing the production of an abnormal form of beta globin, such as haemoglobin S (HbS), haemoglobin C, S beta thalassaemia + and S beta thalassaemia 0 , and thalassaemia, which results from abnormalities of the alpha or beta globin genes. As a genetic condition, the clinical features of haemoglobinopathies will typically manifest from about six months onwards in SCD and shortly after birth for infants diagnosed with thalassaemia. The frequency of the monitoring and review process will largely be determined by the level of care provision and severity of the presenting clinical symptomatology and nutritional risk.