OBJECTIVE Cardiac complications are the major cause of morbidity and mortality in beta-thalassemia major. The aim of the study was to evaluate right (RV) and left (LV) ventricular systolic and diastolic functions using myocardial performance index in young, asymptomatic children suffering from thalassemia major, for early detection of cardiac function impairment, preventing further cardiac dama...

A variant hemoglobin fraction may be an incidental finding during HbA(1c) analysis using the G8 Tosoh HPLC analyzer, but it is unclear if the retention times and fraction patterns can reliably predict the findings of a high-performance liquid chromatography (HPLC) β-thalassemia program (Bio Rad Variant II analyzer). We chose 100 samples sent for HbA(1c) determinations (G8 Tosoh) with an inciden...

OBJECTIVE Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes 'silent beta thalassemia' is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population. METHODS Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic ...

Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalassemia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin...

Background: Thalassemia syndromes are the commonest genetic disorders of blood and constitute a vast public health problem with 2.78 to 4% prevalence in India. The most effective feasible approach reduce incidence thalassemia major is implementation carrier screening program screen antenatal women early pregnancy. Methods: Institutional based cross sectional observational study was conducted. W...

Background: Screening and counselling is the most effective way to prevent the birth of children with thalassemia major. An accurate and relatively less time-consuming protocol is necessary to screen large populations. Separating iron deficiency anaemia from thalassemia trait based on blood cell parameters has been used by hematologists for many years. We aimed to design a new approach to scree...

objective: this study was designed to investigate rbc indices and hba2 levels in parents of major beta-thalassemia patients to detect possible silent beta- thalassemia carriers and examine its potential impact on the premarital genetic counseling. materials and methods: this cross sectional study was performed at children medical center from 2004 to 2006. after genetic counseling and getting in...

background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta glo­bin genes. the aim of the present study was to identify the distribution and frequency of the most com­mon β-thalassemia mu­tations among the population of isfahan province in central iran. methods: the data presented here were derived from a total of 114 β-thalassemia chro...

Cardiac iron overload causes most deaths in beta-thalassemia major. The efficacy of deferasirox in reducing or preventing cardiac iron overload was assessed in 192 patients with beta-thalassemia in a 1-year prospective, multicenter study. The cardiac iron reduction arm (n = 114) included patients with magnetic resonance myocardial T2* from 5 to 20 ms (indicating cardiac siderosis), left ventric...

Over 2000 gene variants were reported in the beta globin gene, including hemoglobin variants. These variants are important from clinical and genetic counseling points of view [1,2]. Recently a genetically related Turkish couple was referred to our department for genetic counseling for beta thalassemia carrier status. During premarital screening they were both diagnosed as beta thalassemia carri...