Discrimination of various thalassemia syndromes and iron deficiency and utilization of reticulocyte measurements in monitoring response to iron therapy.

Decreased hemoglobinization of red cells resulting in hypochromia and microcytosis are the main features of thalassemia syndromes, and also of iron deficiency anemia (IDA). A simple and reliable method is required to distinguish the two conditions in the routine laboratories. In this study we analyzed the red cell and reticulocyte parameters from 414 samples of various types of thalassemias and IDA and discovered a variety of discriminating criteria including a discrimination index (DI) which should be useful for differential diagnosis. Slightly decreased MCV and CH are suggestive of α-thalassemia 2, Hb CS, and Hb E heterozygotes whereas the increased Rbc counts are obvious in α-thalassemia 1 and ß-thalassemia. In Hb E, the number of microcytic red cells was greater than the number of hypochromic red cells resulting in an increased M/H ratio. Hb H diseases are characterized by a higher number of hypochromic red cells and decreased CHCM, while broadening of hemoglobin concentration histogram results in increased HDW in ß-thalassemia diseases. Iron deficiency anemia results in hypochromic-microcytic red cells and increased RDW. The number of reticulocyte with %High Retic and CHr value were increased in the first month of iron supplementation indicating the response to iron therapy.

A scoring system for the classification of beta-thalassemia/Hb E disease severity.

Beta-thalassemia intermediate patients show a remarkable clinical heterogeneity. We examined the phenotypic diversity of 950 beta-thalassemia/Hb E patients in an attempt to construct a system for classifying disease severity. A novel scoring system based on six independent parameters, hemoglobin level, age at disease presentation, age at receiving first blood transfusion, requirement for transfusion, spleen size, and growth and development, was able to separate patients into three distinctive severity categories: mild, moderate, and severe courses. This system, therefore, can increase the accuracy of studies of genotype-phenotype interactions and facilitate decisions for appropriate patient management.