Gene frequency reports of sickle cell trait among six human populations of Jammu and Kashmir, India

• Sickle cell disease is the most commonly inherited blood disorder, causing high child mortality worldwide.
• The prevalence of SCT ranged from 4.41% to 16.36% among males and 6.67% to 20.83% among female children of six populations.
• We observed significant differences in the allele frequencies of SCT among six human populations.
• The present study has a significant role in genetic epidemiology and transfusion medicine.

Sickle cell disease (SCD) is the most commonly inherited blood disorder, causing high child mortality worldwide. The study aimed to determine the prevalence and gene frequencies of sickle cell trait (SCT) among six regional human populations from Jammu province of Northern India. The prevalence of SCT ranged from 4.41% to 16.36% among males and 6.67% to 20.83% among female children of six populations. The average prevalence of SCT was 9.30% observed among males and 11.16% among female children. The highest frequency of sickle cell trait was observed among Mughal population (male = 16.36%, female = 20.83% and combined group = 18.45%). The lowest frequency of sickle cell trait was found among Khan population (male = 4.41%, female = 6.67%, and combined group = 5.47%). The population-based chi-square values showed a significant difference (p < 0.05). We observed significant differences in the allele frequencies of SCT among six human populations. The results from this study provide information on the genetic variation of SCT among different human populations inhabiting Jammu and Kashmir. Understanding the epidemiology of SCT at population level would help in genetic counseling strategies to minimize its harmful consequences.