Catalog

Recessive hereditary methaemoglobinaemia type 2

No MMS code

Link to WHO Definition

Recessive hereditary methaemoglobinaemia type 2 – http://id.who.int/icd/entity/1774491112

Hemoglobin C disease is characterised by the synthesis of an abnormal haemoglobin called haemoglobin C (HbC), instead of the normal haemoglobin A (HbA). Subjects heterozygous for HbC (AC) are asymptomatic and may present with a mild microcytosis with an increased red blood cell resistance to haemolysis. Subjects homozygous for HbC (CC) have usually compensated haemolysis with splenomegaly. There is an increased risk of hypersplenism, biliary lithiasis, folate deficiency and worsening of anaemia following Parvovirus B19 infection.