Hematological features and molecular lesions of hemoglobin gene disorders in Taiwanese patients

Abstract

P>Hemoglobin (Hb) gene disorders are one of the most common inherited diseases in Taiwan, which include alpha-thalassemia, beta-thalassemia, and Hb variants. In this study, we collected and analyzed mutations found in 930 patients with Hb gene disorders except Hb Bart's Hydrops and beta-thalassemia major. The patients included 650 cases of alpha-thalassemia, 225 cases of beta-thalassemia, 9 cases of alpha-thalassemia combined with beta-thalassemia, and 46 cases of Hb variants or Hb variants combined with alpha-thalassemia or beta-thalassemia. The most common type of alpha 0-thalassemia and alpha++-thalassemia mutations in our study were the SEA type deletion and the alpha 3.7 deletion, respectively; the most common beta-thalassemia mutation was the IVS-2 nt 654 C -> T mutation; and the most common Hb variant was the HbE. We compared the relationships between genotype and hematological phenotypes of various Hb gene disorders and found that different genotypes of alpha 0-thalassemia have similar hematological features. In conclusion, the results of our study provide data of the complex interaction of thalassemias and Hb variants which might be useful for other researchers in this field.