Acute anemie bij een Vietnamese patiënt met α-thalassemie en een Parvovirus-infectie

A 14-year-old girl of Vietnamese descent with an unremarkable medical history presented with haemodynamic shock due to severe anaemia. This was caused by an aplastic crisis resulting from the combined effects of a Parvovirus infection and HbH disease. The HbH disease was a result of compound heterozygosity for the South East Asia (SEA) deletion and the Constant Spring mutation in the genes coding for α-globin chains (HbH/Hb Bart's). The girl had multiple blood transfusions and recovered. Family investigation revealed that, in addition to these 2 mutations in the α-globin gene, some family members also carried the 3.7-kb deletion of the α-globin gene, a mutation in the β-globin gene resulting in HbE, and a novel mutation of dut clinical significance in the β-globin gene. This case demonstrates that essentially asymptomatic carriership of thalassaemia can have serious consequences when coupled with a concurrent infection.