Case 67 – part 3 summary

Thankyou for all your help this week. This week we had a quick look at 3 causes for anaemia in children, although there are obviously many more!
For our final case this week we had a young boy who had hereditary spherocytosis presenting with anaemia and reticulocytopenia following parvovirus infection.
Hereditary spherocytosis is a genetic condition with leads to defects in the red cell surface membrane proteins. This leads to spherocytosis/micro spherocytosis and a shortened red cell survival as they are removed by the spleen. There are different mutations that can cause HS and it can be autosomal dominant or recessive. There may be no family history apparent and new mutations can also present. It is the commonest hereditary haemolytic anaemia in Northern Europeans.

Patients may be entirely asymptomatic, however some may present young, or neonatally with problems related to anaemia/jaundice. In severe cases this can require transfusion/exchange in the neonatal period. 

Patients can get aplastic crisis this can be as a result of viral infections, such as parvovirus. They can also get a megaloblastic crisis as a result of folate deficiency. They may also be at an increased predisposition of gallstones (pigment gallstones) – and in some patients this may be the presenting feature.

Bloods may show anaemia, although this may be only mild, or sometimes normal, a reticulocytosis, raised mchc, mcv may be normal or low, raised ldh, dat negative, often raised bilirubin. Blood film will show spherocytosis. Patients will often have splenomegally.

EMA, can be used to investigate for this. The osmotic fragility test has also previously been used.

Patients may remain relatively asymptomatic from HS although they should still have folic acid supplementation. Some children may get problems with fatigue, which can affect participation in school, there may be growth problems and some children may require transfusion. In some patients who are more severely affected splenectomy may be required, however if needed this is usually not done before the age of 6 due to infection concerns.

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