ICD-11

Any disorder caused by a HbS mutation in the haemoglobin gene. This disorder is characterised by abnormal rigid sickle-shaped red blood cells decreasing its ability to carry oxygen. This disorder may present with fatigue, shortness of breath, dizziness, headaches, pallor of skin or mucous membranes, and jaundice. This disorder is confirmed by identification of HbS mutation by genetic testing.

A disease caused by determinants arising after birth, in the antenatal period or by genetically inherited factors leading to high oxygen affinity haemoglobin. This disease is characterised by abnormalities in the globin chains that alter the affinity of the haemoglobin molecule for oxygen, affecting the normal loading of oxygen in the lungs and delivery of oxygen to the tissues.