Genetic variant detection in a South African haemophilia B population.

Background: Haemophilia B is characterised by a deficiency of factor IX (FIX) protein due to genetic variants in the FIX gene (F9). Genetic testing may have a vital role in effectively managing haemophilia B. However, in many developing countries, comprehensive genetic variant detection is unavailable.

HLA major allele group frequencies in a diverse population of the Free State Province, South Africa.

Background: Human Leucocyte Antigens (HLA) play a vital role in disease pathogenesis and transplant rejection. HLA-typing is a useful tool in predicting disease progression and to identify potential organ donors. Due to human migration and known ethnic variation, frequent targeted HLA sequencing of specific populations is crucial to increase their representation in global reference panels.