Thalassaemia and Malaria

QUESTION

How can Thalassaemia effect Malaria infection?

ANSWER

Thalassaemia is the name given to a group of inherited genetic blood disorders, which result in reduced or no synthesis of one of the globin protein chains that combine to make haemaglobin. Haemaglobin is used to carry oxygen throughout the body and to its organs.

Thalassaemia can result in anaemia; in some cases, this is severe enough to require periodic blood transfusions. There has long been a hypothesis that thalassaemia might have persisted due to conveying protection against malaria infection; this was suggested due to the geographical distributions of populations with high prevalence of the alleles (gene types) that cause thalassaemia and areas with high levels of malaria transmission. However, scientifically confirming this association has proved challenging.

A recent study from Kenya demonstrated that children with either one copy of the thalassaemia allele or two copies appeared to have a reduced incidence of severe malaria, fewer deaths from malaria and were hospitalized less frequently for malaria. However, they were just as likely as non-thalassaemic children to have mild or sub-clinical malaria, and the same levels of parasitaemia (numbers of parasites in the blood).

A contrasting study from Vanuatu observed higher incidences of severe malaria in children with thalassaemia, though one potential confounding factor in comparing these studies is that the Vanuatu study looked at both P. falciparum and P. vivax, whereas the Kenya study only looked at P. falciparum malaria.

The difference is significant: one of the proposed mechanisms by which thalassaemia protects against malaria is by preventing modification of the surface of red blood cells, which causes the red blood cells to become “sticky” and sequester within the blood vessels that feed major organs, eventually restricting blood flow and causing major complications. This sequestration is only observed to occur during infection with P. falciparum, and so thalassaemia might not be as protective against other forms of malaria. More empirical research from the field is needed to understand the mechanisms relating malaria infection with thalassaemia more fully.