Detection of beta-thalassemia carriers among relatives of patients with thalassemia in Menoufia Governorate

Abstract

Objectives To detect thalassemia carriers among relatives of patients with thalassemia major. Background Thalassemia syndromes are a group of blood disorders inherited in autosomal recessive manner that cause hemolytic anemia because of the decreased or absent synthesis of a globin chain. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Thalassemia is the most common type of genetic abnormalities in the world. It is one of the most common genetic disorders in Egypt. Thalassemia major is variably referred to as 'Cooley's anemia' and 'Mediterranean anemia.' Thalassemia minor is also called 'beta-thalassemia carrier,' 'beta-thalassemia trait,' or 'heterozygous beta-thalassemia.' Patients and methods This study includes 100 children. All of them are relatives of patients with beta-thalassemia major who attended the Pediatric Hematology Clinic, Menoufia University Hospitals, in the period from May 2015 to November 2017. The age of our group ranged from 6 months to 18 years. Complete blood count, blood film, iron profile (serum iron, serum ferritin, and total iron-binding capacity), and hemoglobin electrophoresis were done for all. Results A total of 30 (30%) children were found to be carriers of beta-thalassemia, 20 (20%) children were found to have iron-deficiency anemia, 20 (20%) children were found to be both carriers of beta-thalassemia and have iron-deficiency anemia, two (2%) children had thalassemia intermediate, two (2%) children had sickle cell trait, and 26 (26%) children were normal. Conclusion Beta-thalassemia carrier status is the most common cause of microcytic anemia among relatives of patients with beta-thalassemia major.