Disease-gene associations mined from literature

Human genes for thalassemia

Thalassemia [DOID:10241]

Thalassemia (British English: thalassaemia) is a group of inherited autosomal recessive blood disorders that originated in the Mediterranean region. In thalassemia the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin. This can cause the formation of abnormal hemoglobin molecules, thus causing anemia, the characteristic presenting symptom of the thalassemias.

Synonyms:  thalassemia,  DOID:10241,  Sickle-cell thalassemia with crisis,  Sickle-cell thalassemia without crisis,  thalassemia Hb-S disease with crisis ...

Linkouts:  OMIM #1 #2