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A 3 year old child with jaundice since 1 year
A 3 year old child with jaundice since 1 year 26/05/2009 https://www.pediatriconcall.com/Journal/images/journal_cover.jpg
Dr Ira Shah.
Medical Sciences Department, Pediatric Oncall, Mumbai.

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Shah I. A 3 year old child with jaundice since 1 year. Pediatr Oncall J. 2007;4: 36.

Address for Correspondence
Medical Sciences Department, Pediatric Oncall, Mumbai

Clinical Problem :
A 3½ years old boy born of non-consanguineous marriage presented with yellowish colour of skin and eyes without high coloured urine noted since 1 year. There is no history of bleeding, joint pains, rash or fever or blood transfusion. On examination, the child had pallor, icterus, frontoparietal bossing with malar prominence and splenohepatomegaly. Other systems were normal.
 
Question :
What is the diagnosis ?
 
Expert Opinion :
Expert’s opinion:- Dr Ira Shah

The child appears to have hemolytic facies with anemia and indirect hyperbilirubinemia. Since there is no high coloured urine, direct jaundice seems unlikely and thus chronic liver disease or hepatic cause of jaundice seems unlikely. The indirect hyperbilirubinemia suggests a hemolytic process and with a duration of 1 year of jaundice suggests a chronic process. Thus an acute hemolysis as in G-6-PD deficiency or autoimmune hemolytic anemia seems unlikely. A chronic process of hemolysis in a child with splenohepatomegaly and anemia suggests a congenital hemolytic anemia. Thalassemia major usually presents by 6-7 months of age and child is transfusion dependent. This child has never received a transfusion and he is already 3½ years of age, thus thalassemia major is unlikely. A possibility of Thalassemia intermedia or Sickle Thalassemia or Hereditary Spherocytosis may be considered.
This child had a hemoglobin of 6.0 gm/dl with WBC count of 22,200/cumm and nucleated RBCs on peripheral smear with reticulocyte count of 1.6%. His sickling test is negative. Hemoglobin electrophoresis showed HbF of 30%, HbA2 of 3.8% and remaining HbA confirming the diagnosis of Thalassemia intermedia.
 
Funding:  None  
 
Conflict of Interest: None
 
DOI No. : 
 
Cite this article as :
Shah I. A 3 year old child with jaundice since 1 year. Pediatr Oncall J. 2007;4: 36.
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