Disease-gene associations mined from literature

Human genes for sickle cell anemia

Sickle cell anemia [DOID:10923]

Sickle-cell disease (SCD), or sickle-cell anaemia (or anemia, SCA) or drepanocytosis, is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the hemoglobin gene. Life expectancy is shortened. In 1994, in the US, the average life expectancy of persons with this condition was estimated to be 42 years in males and 48 years in females, but today, thanks to better management of the disease, patients can live into their 50s or beyond. In the UK, the current life expectancy is estimated to be 53–60 years of age.

Synonyms:  sickle cell anemia,  DOID:10923,  Hb SC disease,  Hb-S/Hb-C disease,  Hb-SS disease without crisis ...

Linkouts:  OMIM #1 #2