background : β-thalassemia trait is one of the most common genetic disorders in mediterranean countries. previous studies have shown that β- thalassemia trait has a protective effect against malaria, coronary artery disease, hypertension and alzheimer disease. we hypothesize that due to the shorter life span of red blood cells and increased hematopoiesis, these patients are at increased risk of...

The frequency of alpha-thalassemia was 3.6% among Turkish newborns in a study that employed globin gene mapping analysis of DnA [4]. In our study, in 13 out of 205 cord blood samples alpha-thalassemia was found 6.3%. There was mistake at incidence so hat we improved with erratum [5]. The incidence of β-thalassemia trait was very high level, the incidence of a-thalassemia trait was also found hi...

One of the genetic features of the Sardinian population is the high prevalence of hemoglobin disorders. It has been estimated that 13% to 33% of Sardinians carry a mutant allele of the alpha-globin gene (alpha-thalassemia trait) and that 6% to 17% are beta-thalassemia carriers. In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cas...

Objective: β-Thalassemia is one of the familiar single gene disorders which passes from parents to offspring. The prevalence of β-thalassemia trait varies from 1-14% in different regions of India. Every year almost 9000 β-thalassemic major children are being born in the Indian sub-continent. In the present study, the prevalence of β-thalassemia trait was checked and some screening tests were pe...

BACKGROUND The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygo...

hemoglobinopathies are the most common single gene disorders worldwide with a considerable frequency in certain area particularly mediterranean and middle eastern countries. hemoglobinopathies include structural variants of hemoglobin (hb s, hb c, hbe,…) and thalassaemias which are inherited defects in the globin chains synthesis. the present study was conducted to determine the prevalence of h...

BACKGROUND Thalassemia major is one of the most common genetic disorders in Pakistan and over five thousand new patients are added in the pool annually. This familial disease has both medical and social implications, and therefore there is a need to assess the magnitude of beta-Thalassemia trait amongst family members of Thalassemia major patients. METHODS This cross-sectional descriptive stu...

The inherited diseases of hemoglobin have remarkable phenotypic variability because of genetic modifiers necessitating medical intervention at various stages of disease. Genotype–phenotype relationship is crucial in this regard. So three year retrospective study of biochemical pattern of Hemoglobinopathies and Thalassemias and their clinical manifestations was done in a cohort of 689 patients i...