Beta-thalassemia is one of the most common inherited hematological diseases caused by more than 350 mutations in the β-globin gene (HBB). Beta-thalassemia carrier or trait is associated with defects in one allele of the HBB gene. The majority of beta-thalassemia trait cases remain concealed in society and remain unnoticed as they are mostly asymptomatic or present with mild symptoms of anemia. There is a 25% chance of having children with beta-thalassemia major and a 50% chance of having carrier babies when two people with beta-thalassemia trait are married. Hence, it is important to identify the individuals with betathalassemia trait and provide counseling to understand the risks of pregnancy and its outcome.
AimTo study the identification of beta-thalassemia trait cases along with their clinical findings and hematological correlation.
Materials and methods
Study DesignThis was a retrospective study conducted at Saveetha Medical College and Hospital for a period of four years from January 2020 to December 2023.
Inclusion CriteriaAge group more than 18 years, antenatal mother, cases of anemia who were refractory to iron treatment, and screening of family members in the positive cases of beta-thalassemia trait.
Exclusion CriteriaHistory of blood transfusion within three months was excluded.
Data CollectionA total number of 837 cases were screened to rule out the presence of beta-thalassemia trait/hemoglobin (Hb) variants. A 2 mL of intravenous blood samples were collected in an ethylene diamine tetraacetic acid (EDTA) vacutainer tube and processed in a Sysmex XN 1000 (Hyogo, Japan: Sysmex Corporation) automated hematology analyzer. The hematological parameters were analyzed.
Statistical AnalysisThe study included both descriptive and analytical characteristics. Mean and standard deviation (SD) were calculated for all the hematological parameters. Beta-thalassemia trait was diagnosed with an HbA2 level of more than 4.0% through high-performance liquid chromatography (HPLC) analysis.