A 6-years-old child belonging to Punjabi family with past history of blood transfusions presented with hemoglobin 3.5 g/dl, MCV – 30 fl, MCHC – 20. Peripheral smear findings of microcytic hypochromic anemia with target cell and reduced osmotic fragility. What is the he probable diagnosis of patient?
Correct Answer: Beta thalassemia major
Description: Comparing the given history & options one by one: Reduced values of MCV and MCHC: microcytic hypochromic anemia (G6PD deficiency is ruled out) 6 year old and Punjabi ethnicity, history of repeated blood transfusions- in our of thalassemia Osmotic fragility is reduced: in our of thalassemia again though it may be seen in sickle cell also Also, the hemoglobin level in the question is more suggestive of severe anemia with positive history of multiple blood transfusions both being impoant pointers towards thalassemia major. Please note that apa from Punjabis, other ethnic groups having high prevalence of thalassemia are Sindhis, Gujaratis, Parsis, Begalis and Lohanas.
Category:
Pathology
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