Clinical and haematological presentations of haemoglobin e disorders from Northern Pakistan

Objective: to evaluate clinical and haematological findings in any form of hbe disorder in pathan families from northern pakistan. material and methods: it was a hospital based,prospective observational study,carried out in thalassemic patients,at haematology department,kuwait teaching hospital and fatimid foundation,peshawar,from july 2010 to december 2011. results: during the study period,a total of 13 cases of hbe were detected in 3650 registered thalassemics with an incidence of 0.35%. 6/13 (46%) cases of compound heterozygous hbe/ β thalassemia were found,with four of them behaving as β thalassemia major (btm) and two as β thalassemia intermedia (ti). 7/13 (54%) cases were heterozygous hbe,all asymptomatic. no case of homozygous hbee was detected. conclusion: haemoglobin e disorders are not uncommon in pathan families from northern pakistan and may behave as btm or ti.