Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population

ABSTRACT

Background and Objective: Alpha [alpha] thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms hemoglobin Bart hydrops fetalis [Hb Bart] syndrome and hemoglobin H [HbH] disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -alpha[3.7] with a frequency of 8.3%, and the rare forms were -alpha[4.2] [0.2%] and alphaalphaalpha[anti3.7] [0.9%]. In our study, diagnosis of severe anemia cases without any alpha and beta mutations or deletions were made by using extended alpha thalassemia deletions panel. The main objective of this study was to determine the prevalence and to study the spectra of alpha thalassemia gene deletions in beta thalassemia patients with the use of an extended panel including -[SEA], --[FIL], --[MED], --[20.5], --[THAI] in addition to -alpha [3.7], -alpha [4.2] and - alphaalphaalpha[anti3.7]