Sickle cell thalassaemia with crisis with acute chest syndrome (Q92046)

A disease caused by genetically inherited sickle cell (HbS) mutation from one parent and a thalassemia mutation from the other parent. This disease is characterised by abnormal rigid sickle-shaped red blood cells and abnormal production of the beta chain in a haemoglobin molecule and, acute chest syndrome. This disease may present with pallor, jaundice, acute chest pain, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.