CASES OF THE WEEK – “Rare challenging case of undiagnosed hereditary anaemia” by Dr Hossameldin Maged, Consultant Paediatrics, NMC Royal Hospital Sharjah
Rare challenging case of undiagnosed hereditary anaemia:
An 18 month old baby boy came to the paediatric clinic with yellowish discoloration of face and body. He has been associated since birth with pallor, poor activity and loss of appetite. The parents visited numerous hospitals in search of cure regarding the cause of persistent jaundice and chronic anaemia but to no avail.
There was a family history from the maternal side of chronic anaemia. Serial blood investigations were done in the Al Zahra Hospital laboratory revealed that the patient suffered from cell membrane defect of red blood cells called Hereditary Pyropoikilocytosis (HPP).
Hereditary Pyropoikilocytosis (HPP) is an autosomal recessive disease hemolytic anaemia. It has been associated with defect of erythrocytes membrane protein – spectrin which leads to increased membrane fragility causing hemolysis, jaundice and anaemia in infancy. It is mutations of alpha spectrin gene is considered as a severe form of hereditary elliptocytosis.
Diagnosis of this disease is done by testing of gene mutations and peripheral blood smear which will show HPP erythrocytes and maybe bizarre shaped with fragmentation or budding poikilocytosis.
The patients with HPP should receive folate supplementation. Counselling of family members should be done.