DETECTION OF PREVALENCE OF Β-THALASSEMIA TRAIT IN CHILDREN ATTENDING A TERTIARY PEDIATRIC UNIVERSITY HOSPITAL FOR NON-HEMATOLOGICAL DISORDERS USING RED BLOOD CELL INDICES

Thalassemia syndromes are the most common single-gene disorder worldwide. About 3% of the world population (150 million) carries the thalassemia genes. In Egypt, β-thalassemia is the most common genetically determined, chronic, hemolytic anemia, and carrier rate are estimated to be 8.5–10% [1,2]. Screening programs have been adapted to meet the needs of different communities and seem to reflect acceptable cultural practices. Screening is either mandatory for all couples before marriage or voluntary in high schools, before pregnancy and antenatally [3]. However, Egypt has a high level of consanguineous marriages which prevents proper premarital screening. Another obstacle is the high cost of genetic testing compared to the target population size and country resources. Apart from the socioeconomic burden, the quality of life of β-thalassemic patients is far behind their healthy peers [4]. Screening for β-thalassemia is technically difficult, mainly due to its genetic heterogeneity and the absence of a single pathognomonic finding to cover all variants. Despite these difficulties, many screening attempts have been made where differentiation from iron deficiency (ID) was most important. The most reliable methods for diagnosis of thalassemia trait (TT) include quantitative determination of hemoglobin A2 (HbA2), hemoglobin F, globin chain synthetic ratios, and DNA studies for specific mutations. These methods, though accurate, could not be a tool for initial mass screening [5,6]. Indices can be used in this context to detect subjects who would require appropriate follow-up and reduce unnecessary costs. The data published for younger age groups regarding discriminative power of indices are less, compared to adults. An ideal discrimination index has variable sensitivity and specificity in different ethnicities [2,7]. There is a paucity of data regarding screening the pediatric age group as most of the successful screening programs that led to the eradication of the disease were done in adulthood as mandatory premarital programs [8]. This makes it important to set the proper values on which the screening is made and to test the already validated indices on the current population, especially when attempting to screen the pediatric group. The study was conducted to test the validity of different blood indices and formulas derived from automated hematology analyzer in predicting β-TT (BTT) and differentiate it from ID.