Open AccessA Rare Case Presentation of HbE/ β Thalassemia
Author(s) -
Anu Singh,
Vijay Kumar,
Madhumati Singh,
Praveen Kumar Sahu,
Garima Baweja,
Sheeba Marwah
Publication year - 2020
Publication title -
annals of pathology and laboratory medicine
Language(s) - English
Resource type - Journals
eISSN - 2394-6466
pISSN - 2349-6983
DOI - 10.21276/apalm.2794
Subject(s) - medicine , asymptomatic , thalassemia , jaundice , hemoglobinopathy , pediatrics , presentation (obstetrics) , anemia , hemolytic anemia , surgery
HbE/β thalassemia (HbE/β thal) genotype accounts for approximately one half of severe β thalassemia cases worldwide. The disorder shows marked clinical variability ranging from mild asymptomatic anemia to life threatening disease. Here, we report a case of a 2-year-old boy from Bihar presenting with severe haemolytic jaundice. Complete haematological profile and Haemoglobin High Performance Liquid Chromatography (Hb HPLC) using Biorad version was done of the patient along with the family was done to arrive at the diagnosis of this rare hemoglobinopathy.