Child With Thalassemic Facies

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

Thalassemia

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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	Specialist Answers
Question
A 9 year old child , product of consangineous marriage is brought to us with history of pallor. On examination child was markedly pale with thalassemic facies (prominent cheeks).On systemic examination, he had jaundice, with liver of 3cm below the right coastal margin and spleen just palpable. Others system were normal. Height and weight was normal for his age. There is no history of blood transfusion in the past. His mother is thalassemic carrier and one on his younger sister is thalassemic major being transfused every month. Our admitting diagnosis was hemolytic anemia most likely thalasemia intermedia. But lab shows picture as thalassemia minor as his HB electrophoresis showed HbA as 83.1%, HbA2 as 10% and HBF as 6.9%. Retic counts were 4%, Hb on admission was 5g/dl. His LFT's showed liver enzymes normal, bilirubin was 2.6mg/dl. His RDW was 42. Peripheral film show anisocytosis, piokiolocytosis and fragmented RBC. Urine R/E showed no bilirubin in urine. His Ferritin is 111ng/ml(N) My question is this child is clinically behaving as thalessemia intermedia but Hb electrophoresis show thalessemia minor picture. It is mentioned in literature that con-comitent iron deficiency anemia can interfere with HB electrophoresis by interfering with HbA2 being high. But how to diagnose iron deficiency anemia in thalassemic child when serum ferritin is 111ng/ml. What should be done further in this child to arrive at a conclusion?
Answer
1. Based on the clinical and hematological picture of this patient, he certainly seems to have "Thalassemia Intermedia" 2. thalassemia Intermedia can be a consequence of a combination of many different gene defects. For e.g. A single beta thalassemia gene defect from one parent,(beta thalassemia carrier) can combine with another defect from the other parent, which may be alpha or beta or even delta gene defect. 3. Hence the above clinical and hematological phenotype of the child can be further dissected by molecular gene analysis of the entire family. Back to All Questions

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