Inheritance of β Hemoglobin Gene Mutation: Potential Method of Newborn Screening of Sickle Cell Anemia in Bangladesh

Abstract

Objectives: Sickle cell anemia is the most common genetic disorder that affects hemoglobin. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent shape. Sickle cell disease is an increasing global health problem. Estimates suggest that every year approximately 300,000 infants are born with sickle cell anemia, which is defined as an autosomal recessive disorder. The objective of this study is to show that the newborn screening of sickle cell anemia is possible through the procedure by utilizing the cord blood. Materials and Methods: A total number of 30 samples were collected from individual mother and cord blood. DNA was extracted from 13 mothers and 13 fetal cord blood samples and used these DNA to detect sickle cell anemia using wild type and mutant type primer. Results: β hemoglobin gene was amplified by wild type and mutant type primer using PCR and revealed 517bp and 267bp length DNA fragments, respectively. In this study, it was observed that only one homozygous (Hb S/S) mother and newborn found. Most of the mothers and newborns were carrier of sickle cell anemia which means they were heterozygous (Hb A/S). Two pairs were found where mother was carrier, but newborns were healthy (Hb A/A). Conclusions: With this study, it can come to the point that the newborn screening of sickle cell anemia is possible through the procedure by utilizing the cord blood that is wasted every time during delivery. By maternal screening in this way, the probability of disease transmission can also be checked earlier. For Bangladesh, this approach can be an effective tool for screening sickle cell anemia.