title: Is hemoglobin e gene widely spread in the state of madhya pradesh in central India? Evidence from five typical families.
abstract: BACKGROUND
  Red cell inherited hemoglobin (Hb) anomalies are commonly encountered in the central region of India. These cause a public health concern due to high level of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people.
  
  
  OBJECTIVE
  To report five typical families of Hb E disorders for the first time detected and identified from various districts of the state of Madhya Pradesh in central India.
  
  
  METHODS
  Out of a total of 447 couples/families referred from a tertiary hospital in central India for investigations of anemia/hemoglobinopathies during the period from March 2010 to February 2014, we came across five typical rare couples/families of Hb E disorders (1.1%) worthy of detailed investigations that we have reported here. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time.
  
  
  RESULTS
  For the first time, out of total 27 cases studied, we have encountered nine cases of heterozygous Hb E trait (33.3%), two members (7.4%) with Hb E-β-thalassemia (double heterozygosity), two cases (7.4%) of sickle cell-Hb E disease (double heterozygosity), two β-thalassemia traits (7.4%), three sickle cell traits (11.1%), 9 normal (33.3%), and none with homozygous Hb E disease. Cases of Hb E trait, Hb E-β-thalassemia, and sickle cell-E disease showed moderate to severe anemia, and target cells, and reduced values of red cell indices like red blood cell count, Hb level, hematocrit, mean cell volume, mean cell Hb and mean cell Hb cencentration, describing abnormal hematological profile and clinical manifestations before blood transfusion.
  
  
  CONCLUSIONS
  Double heterozygosity of β-thalassemia with Hb S and Hb E is a rare entity, but occurs with severe clinical manifestations, testifying either migrations and/or genetic admixture. Co-occurrence of Hb E/β-thalassemia in different districts indicates that these anomalies along with other hemoglobinopathies are wide spread in Madhya Pradesh and posing a major genetic burden on vulnerable people of central India.
authors.affiliation: Department of Biochemistry, Regional Medical Research Centre for Tribals (ICMR), Madhya Pradesh, India.
authors.forename: R S
authors.initials: RS
authors.lastname: Balgir