Preferred Label : Haemoglobin Koya Dora;
ICD-11 definition : A disease caused by genetically inherited factors affecting the alpha 2 stop codon
in the alpha chain of the haemoglobin molecule. This disease is characterised by structural
abnormalities of the haemoglobin molecule. Carriers of this disease may present with
by alpha thalassemia like symptoms: pallor, fatigue, shortness of breath. Confirmation
is by identification of mutation in the alpha 2 stop codon by genetic testing.;
Origin ID : 59493866;
Automatic exact mappings (from CISMeF team)
A disease caused by genetically inherited factors affecting the alpha 2 stop codon
in the alpha chain of the haemoglobin molecule. This disease is characterised by structural
abnormalities of the haemoglobin molecule. Carriers of this disease may present with
by alpha thalassemia like symptoms: pallor, fatigue, shortness of breath. Confirmation
is by identification of mutation in the alpha 2 stop codon by genetic testing.
