Tests and diagnosis

Screening for sickle cell disease

In communities in the UK where there is a high incidence of sickle cell disorders screening tests are available to identify the condition. Screening is offered where there is a family history of sickle cell, to women of reproductive age, to couples planning a pregnancy, to people having general anaesthetics and at antenatal clinics. Education and genetic counselling are offered to people and families at risk.

Techniques are available that permit screening of the foetus in early pregnancy if one or both parents are known to have the abnormal gene. A diagnosis of foetal sickle cell anaemia permits the option of pregnancy termination.

Screening of newborn babies is also undertaken to enable early diagnosis of sickle cell anaemia in affected infants.

Diagnosis

Diagnosis is made by blood tests and in the UK diagnosis of sick cell anaemia and initiation of treatment is usual in the first year of life. The aim of treatment is for the child to lead a normal life, attend school and enter adulthood with few or no complications of the disease.

Amended May 2009