Types of sickle cell disease seen in the UK

In patients with sickle cell disease (SCD) there is inheritance of the gene for sickle haemoglobin (Hb S) from one parent and a gene for an abnormal haemoglobin variant from the other parent. If the second abnormal gene is:

• also for Hb S - the person is said to have homozygos SCD (HbSS) (1)
  
  
• a different abnormal haemoglobin gene - is called compound heterozygous SCD e.g. -
  
  
  • Hb C in combination with HbS causes Hb SC sickle cell disease
    
    
  • Hb DPunjab in combination with HbS causes Hb SD sickle cell disease
    
    
  • Hb OArab - in combination with HbS causes Hb SO sickle cell disease
    
    
  • beta thalassaemia in combination with HbS causes Hb S/beta-thalassaemia sickle cell disease
    
    
  • Hereditary Persistence of Fetal Haemoglobin in combination with HbS causes Hb S/HPFH sickle cell disease (2)

Reference:

• 1. Sickle Cell Society 2008. Standards for the clinical care of adults with sickle cell disease in the UK
• 2. NHS Sickle Cell and Thalassaemia Screening Programme 2009. Sickle cell and Thalssaemia. Handbook for laboratories