English

Abstract

BACKGROUND Among microcytic hypochromic anaemias, the most common disorders are iron deficiency anaemia (IDA) and co-pathological conditions such as α- or βthalassemia (α- or β- thalassemia) traits. Thalassemia minor is often an asymptomatic carrier state but exhibit marked microcytosis that can be mistaken for iron deficiency. About 1.5 % of the global population (80 to 90 million people) are carriers of thalassemia and more than 200 mutations are described in thalassemia, the only effective way to reduce burden of thalassemia is to prevent birth of homozygotes. The purpose of this study was to estimate the prevalence of beta thalassemia trait (BTT) in adult individuals with microcytic hypochromic anaemia and among antenatal mothers visiting the Obstetric Department of SDMCMSH. METHODS In this prospective descriptive study, 101 adult patients between 18 and 40 years who were in in-patient department (IPD) or attending out-patient department (OPD) from department of general medicine and department of haematology were studied during a period of one year from October 2018 to October 2019 and their blood sample was sent for complete blood count (CBC), iron studies and haemoglobin electrophoresis. All the data was entered in Microsoft Excel software and analysis was done using Minitab software. P value of less than 0.05 was considered statistically significant. RESULTS Out of the 101 microcytic hypochromic anaemia patients analysed, 7 patients have beta thalassemia trait. 4 of the 7 are females. Their haemoglobin electrophoresis report showed high HBA2 value of > 3.8. There were no carriers among the pregnant individuals tested. A regression model was fitted for predicting HBA2 based on values of serum iron, serum ferritin, and mean corpuscular volume (MCV). CONCLUSIONS In conclusion, identification of thalassemia gene mutations in our population is necessary because of the country’s multiracial population. This will prevent unnecessary treatment with iron supplements in thalassaemic patients and also helps in pregnant women to prevent thalassemia major children. Molecular genotyping provides a rapid and reliable method for identification of common, and unknown α - and β - gene mutations, which help to diagnose unexplained microcytosis and thus prevent unnecessary iron supplementation. We conclude that microcytosis due to thalassemia is common in north Karnataka. This illustrates the importance of adequate prenatal and laboratory investigation for these abnormalities. KEYWORDS Beta Thalassemia Trait, Microcytosis, Haemoglobin Electrophoresis, Antenatal Screening, Thalassemia