Background: This study explores thalassemia patients' perceptions concerning the effectiveness of conventional therapies for Thalassemia healthcare. Method: The semi-structured interviews were audiotaped, transcribed verbatim, and translated into English. Results: Nearly all patients reported to have relied on treatment methods treat reduce severity their disease. Few not comply with procedures...

BACKGROUND Heart disease is the main cause of mortality and morbidity in patients with beta thalassemia, rendering its early diagnosis vital. We studied and compared echocardiographic findings in patients with beta thalassemia major, patients with beta thalassemia intermedia, and a control group. METHODS Eighty asymptomatic patients with thalassemia major and 22 asymptomatic cases with thalas...

A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacte...

This hospital-based study reports the results of antenatal screening for thalassemia in pregnant women visiting a hospital in Jodhpur, Rajasthan, India. Eighty-eight (5.9%) of 1500 women screened for thalassemia had thalassemia trait. Twenty at-risk couples were identified and two fetuses were detected to be having thalassemia major.

PURPOSE Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to ret...

BACKGROUND Thalassemia, which may be due to point mutations, translocations, and deletions involving the α or βglobin gene, is the most prevalent single gene disorder in Iran.This study aims to calculate the α/β ratio in normal cases, α- and β-thalassemia carriers by RT-PCR, real-time PCR, and in vitro globin chain synthesis (GCS) in order to establish the most accurate technique to distinguish...

BACKGROUND β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors. PURPOSE The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already...

Objectives: Hemoglobin E disease, c.26G>A variant of beta-globin gene, is the most common hemoglobinopathy in Asia. Compound heterozygotes inheriting Hb disease and beta-thalassemia generate beta-thalassemia-Hb with severe anemia. This study aimed to develop a pre-implantation genetic testing for monogenic disorders (PGT-M) protocol beta–thalassemia (c.17A>T mutation)-Hb (c.26G>A mutat...

To determine whether beta-thalassemia can be detected in the fetus, blood was obtained from abortuses of normal mothers and of mothers with beta-thalassemia trait. The red cells were incubated with radioactive leucine and the globin chains were analyzed by radiochromatography. Two independent methods were utilized to correct the results for contamination by maternal radioactive beta-chain, and ...

Thalassemia is a hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin polypeptide chains. Although thalassemia mostly affects developing countries, there is limited knowledge of its accurate frequency and distribution in these regions. Knowing the prevalence of thalassemia and the frequency of responsible mutations is therefore an important step ...