Catalog

Haemoglobin Koya Dora

No MMS code

Link to WHO Definition

Haemoglobin Koya Dora – http://id.who.int/icd/entity/59493866

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.