Fever with Jaundice and Pallor


A 6 years old boy born of non-consanguineous marriage presented with jaundice without high colored urine for the past one month, fever for one week and pallor for past 2-3 days. The patient has been treated with antimalarials but has had no response. On examination, there was jaundice, pallor, hemolytic facies, tachycardia with gallop rhythm, firm splenomegaly of 9 cm and hepatomegaly of 3 cms. Other systems were normal.

What is the diagnosis?
Expert Opinion :
This child was presented with indirect hyperbilirubinemia (jaundice without high coloured urine) suggestive of hemolysis of long standing duration. The hemolysis suggests a following differential diagnosis
• Hereditary spherocytosis or other RBC membrane defects.
• G-6-PD deficiency
• Autoimmune hemolytic anemia
• Inherited hemoglobinopathy
• Malaria

Since there was no fever initially, malaria seems unlikely. Also the jaundice was not accompanied by anemia initially suggesting that G-6-PD deficiency is less likely. (G-6-PD deficiency could lead to acute hemolysis and severe anemia). The child has hemolytic facies, thus autoimmune hemolytic anemia seems unlikely. Thus one should consider from either hereditary spherocytosis or inherited hemoglobinopathy. Hereditary spherocytosis usually presents with indirect hyperbilirubinemia and splenomegaly. Severe anemia leading to failure is rare. Inherited hemoglobinopathies usually present with transfusion dependent anemia. In this child, since the hemolysis is on going and spleen is massively enlarged leading to anemia, one would consider a splenic crisis and sickle cell disease. Since there are hemolytic facies and the child never had any other problems in the past, there is a possibility of sickle thalassemia with splenic crisis in the child. On investigation, child had indirect hyperbilirubinemia with anemia (hemoglobin = 5 gm%) and reticulocyte count of 16% with the presence of sickle cells on peripheral smear. The hemoglobin electrophoresis confirmed diagnosis of sickle thalassemia.
Answer Discussion :
Alok Kumar
hemolytic anemia
3 months ago
hassan silim
g6pd deficiency
3 months ago

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