cases

A 6-month-old boy is noted to be slightly pale. Otherwise he has been perfectly healthy and well. He was born at 35+5/40 weighing 2.4 kg and there were no neonatal problems.

On examination he has a tinge of jaundice in the scelerae. His temperature is 36.6°C (tympanic) with RR of 25/min and HR of 100/min. He has 3 cm of spleen

.

What is the most likely diagnosis?

(Please select 1 option)

        Haemaglobinopathies, for example, sickle cell, thalassaemia

        Haemolytic anaemia, congenital or acquired

        Iron deficiency

        Malignancy

        Occult blood loss

The history suggests mild anaemia, probably due to haemolysis in view of the icterus and splenomegaly. The likely diagnosis is therefore hereditary spherocytosis.

Blood film (and HP) contain microspherocytes due to a loss of membrane and therefore surface area so that the area of central 

pallor is lost

.

It is a common, usually autosomal dominant, genetic disorder, affecting 1:2,000-1:5,000 Caucasians.

Clinical features are very variable (may be diagnosed at birth [severe], in adulthood, or not at all

).