Contributed by: Dhanya Lakshmi N and Shubha R Phadke  
  Email: shubharaophadke@gmail.com  
  This three-year-old boy presented with generalized edema, global developmental delay, coarse facies, gum hypertrophy, short stature and bilateral cherry red spots in the fundus. He was operated for inguinal hernia. He had 3+ proteinuria and underwent renal replacement therapy for renal failure. What is the diagnosis?  
 

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Answer to PhotoQuiz 34
Heterozygous IVS 1-5 G>C mutation in the HBB gene
Thalassemia major is caused due to homozygous or compound heterozygous mutations in the HBB gene. The sequence track shows a heterozygous mutation of substitution of G (guanine) by C (cytosisne) at 5th position in intron 1 of the HBB gene. This is the most common mutation seen in beta thalassemia patients in India.
 
Correct responses were given by:
1. Jagadish Bhat, Goa
2. Poonam Singh Gambhir, Lucknow
3. G Aruna, Bengaluru
4. Ravindra Kumar, Indore
5. Sona B Nair, Mumbai
6. Prashant Kumar Verma, Agra
7. Croydon Fernandes, Bengaluru