a, fi, and ‘i globin chain synthesis in bone marrow and peripheral blood reticulocytes were studied in two patients with thalassemia major, two with thalassemia intermedia, one with thaIassemia minor, one with Hb H disease, and one with homozygous f38-thalassemia. Nine nonthalassemic patients served as controls. In thalassemia major, a marked imbalance of ato fichain synthesis was found in the ...

BACKGROUND Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with beta-thalassemia from northern Pakist...

BACKGROUND & OBJECTIVE Alpha (α) 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 Pakistan...

Eight thousand seven hundred and thirty-six pregnant women were screened for thalassemia and hemoglobinopathies by mean corpuscular volume less than 80 femtolitres (fl). Three thousand six hundred and seventy women (42%) were MCV less than 80 fl. In this group there were 2,390 women (70%) who had positive Hb typing by high performance liquid chromatography (HPLC) such as beta-thalassemia major,...

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...