Abstract

According to the Thalassemia Federation of Pakistan, the mostly inherited disorder in Pakistan is β-thalassemia, which is characterized by a deficient, abnormal, or lack of β-globin chain synthesis and has a prevalence of 6%. The only method of controlling and preventing β-thalassemia is to increase awareness among students. This was an observational study using a random sampling technique. The Dow-Thalassemia awareness program recruited 915 medical students from the Dow Medical College (DMC) and Sindh Medical College (SMC) to voluntarily donate blood samples, which were analyzed by the naked eye single tube red cell osmotic fragility test (NESTROFT) and complete blood count and results were confirmed by high-performance liquid chromatography and analyzed using the NESTROFT. The samples were collected in 2012-2013. A total of 915 samples, out of these 390 samples, 390/915 (42.6%) samples were positive and complete blood count found 282 (72.3%) were positive for iron deficiency anemia. The remaining 108/390 (27.6%) were confirmed by high-performance liquid chromatography. Only 2.4 % subjects were positive for the β-thalassemia trait. Of 915 students, 57.4% of students were healthy, 39.2% had iron deficiency anemia, and 2.4% were carriers of the β-thalassemia trait. The overall prevalence of β-thalassemia was 38/915 (4.1%), which was lower than observed in previous studies. This study also demonstrated the NESTROFT can be used as a primary method of screening out healthy individuals, where approximately 50% require further screening for β-thalassemia

Highlights

  • Introduction: β-thalassemia is a blood disorder involving defects in functional β-globin chain synthesis

  • The Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) is used for mass screening and field trials for anemia due to being inexpensive and easy to perform To diagnose β-thalassemia, the HbA2 concentration is measured after red blood cell (RBC) lysis by high-performance liquid chromatography (HPLC) with electrophoresis or ion-exchange[6]

  • Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) are used for the preliminary selection of individuals who are at risk of being heterozygous for thalassemia, where MCVs ≤ 80 fL and MCHs < 27 pg are indicative of thalassemia

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Summary

Introduction

Introduction: β-thalassemia is a blood disorder involving defects in functional β-globin chain synthesis. Abnormalities in this globin chain result in diverse phenotypes that range from being clinically asymptomatic to severe anemia This disorder affects 5% of the world population, where 5,000 babies are born with thalassemia in Pakistan annually, 5 out of 100 people are thalassemic, and around 8 million are carriers for thalassemia[1]. The Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) is used for mass screening and field trials for anemia due to being inexpensive and easy to perform To diagnose β-thalassemia, the HbA2 concentration is measured after RBC lysis by high-performance liquid chromatography (HPLC) with electrophoresis or ion-exchange[6] This is considered the “gold standard” and is highly sensitive and specific. Because these medical colleges are considered the best in the country, the student population originates from around the country and is representative of almost all ethnic groups

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