[Acute anaemia in a Vietnamese patient with alpha-thalassaemia and a parvovirus infection].
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 alpha-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 alpha-globin gene, some family members also carried the 3.7-kb deletion of the alpha-globin gene, a mutation in the beta-globin gene resulting in HbE, and a novel mutation of unknown clinical significance in the beta-globin gene. This case demonstrates that essentially asymptomatic carriership of thalassaemia can have serious consequences when coupled with a concurrent infection.
Slomp
J
J
Medisch Spectrum Twente, Postbus 50.000, 7500 KA Enschede. j.slomp@ziekenhuis-mst.nl
Bosschaart
A
A
Dousma
M
M
van Zwieten
R
R
Giordano
P C
PC
van den Bergh
F A J T M
FA
D000293:Adolescent; D000740:Anemia / Q000209:etiology* / Q000628:therapy*; D001803:Blood Transfusion; D005260:Female; D017353:Gene Deletion; D006801:Humans; D009154:Mutation; D009426:Netherlands; D010322:Parvoviridae Infections / Q000150:complications*; D016896:Treatment Outcome; D014744:Vietnam / Q000208:ethnology; D017085:alpha-Thalassemia / Q000150:complications* / Q000235:genetics*