The tribals of Central India (including Munda tribe) are racially different from the tribals of northeastern part of India. Tribals of Chhattisgarh, West Bengal, Odisha, and Jharkhand are Austro-Asiatic speakers of Proto-Australoid race, whereas the tribals of Northeast India are Tibeto-Burman speaking group of Mongoloid origin. Reports on existence of Hb S and Hb E separately among the tea tribe of Assam are well known [
8]. However, compound heterozygosity for Hb S and Hb E was not reported earlier from any community from the multiethnic and multiracial population of Northeast India. Hb SE is a hemoglobin variant having an effect on β-globin gene [
9]. Patients detected with Hb SE disease showed a substitution of glutamic acid by lysine at 26th position of β-globin chain [
10]. Such double heterozygous condition was reported from a 15-year-old
Teli male (Other Backward Caste) from Central India who complained of frequent upper respiratory tract infections, weakness, and fatigue [
11]. In our report, compound heterozygosity for Hb S and Hb E trait has been presented. Even though the case is anemic, he did not show any other symptoms including transfusion dependency. Unlike other hemoglobinopathies, Hb SE symptoms appear in the late childhood stage or after 20 years [
12]. Hematological profile of the subject showed decreased Hb, MCHC, and RBC count and increased MCV, MCH, and RDW values. Hb electrophoresis showed 12.7% of Hb F, 5.4% of Hb A
2, 55.2% of Hb S, and 26.7% of Hb E. Earlier workers have commented that the hematological parameters and Hb levels do not help in identifying the clinical severity of the condition [
13]. Earlier workers also commented that the presence of greater amount of Hb F and lesser amount of Hb S decreases the appearance of clinical symptoms of the patient [
14].
Interaction of Hb S heterozygous father with Hb E homozygous mother has given rise to composite heterozygosity for Hb S and Hb E. On investigation of family history for the last five generations, both parents of the subject had no record of intermarriage with the tribals of Mongoloid origin. The case subject’s siblings diagnosed as Hb E heterozygous also showed low MCHC and RBC counts, with other parameters as normal or slightly higher than the normal values. Hb SE is a clinically benign and rare condition with variable clinical manifestations or even asymptomatically [
10]. Some may show mild symptoms, and in some cases the condition may be more severe such as hemolytic episodes with frequent blood transfusions, whereas in some cases the person may be asymptomatic other than being anemic, as in the present study. Sudden death of an Hb SE person of 12 years of age after exercise was also reported with ventricular septal cardiac defect at the time of birth, mild asthma, and fractures of radius and ulna 17 months prior to death [
15]. These variations in clinical manifestations of the disorder have made its diagnosis difficult. As a result, they are diagnosed occasionally only during examination for other medical complaint [
16].