Microcytosis is a common hematological finding, usually related to iron deficiency or beta-thalassemia. When both of these conditions are excluded, alpha-thalassemia must be considered in the differential diagnosis. No simple biochemical test is able to diagnose the alpha-thalassemia trait. Using PCR amplification of the breakpoint in deletional forms, and amplification of the alpha 2 gene and ...

High frequency of erythrocyte (red blood cell [RBC]) genetic disorders such as sickle cell trait, thalassemia trait, homozygous hemoglobin C (Hb-C), and glucose6-phosphate dehydrogenase (G6PD) deficiency in regions with high incidence of Plasmodium falciparum malaria and casecontrol studies support the protective role of those conditions. Protection has been attributed to defective parasite gro...

Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...

A method for isolating human hemoglobin messenger RNA (mRNA) from bone marrow cells was developed to investigate the molecular basis for the defect in globin synthesis in beta thalassemia. Active mRNA was isolated from the bone marrow cells and peripheral reticulocytes of patients with homozygous beta thalassemia, heterozygous beta thalassemia, sickle cell trait, double heterozygosity for beta ...

Background and Objectives: Beta-thalassemia continues to be a cause of significant burden to the society particularly in the poorer developing countries. Although sophisticated methods of screening have become available, a hunt for a cheap, rapid, objective screening method still remains elusive. Thus, the objectives are to study the validity of Naked-Eye-Single-Tube-OsmoticFragility-Test (NEST...

The a thalassemias are associated with a decrease in a chain synthesis. Hemoglobin H (HbH) disease is a moderately severe form of a thalassemia characterized by the production of 5%-20% of HbH, while a thalassemia trait is a milder form of a thalassemia. In two patients with HbH disease, the ratio of a chain synthesis to fi chain synthesis (a/fl ratio) was decreased in both bone marrow cells an...

Background and Objectives: Beta-thalassemia continues to be a cause of significant burden to the society particularly in the poorer developing countries. Although sophisticated methods of screening have become available, a hunt for a cheap, rapid, objective screening method still remains elusive. Thus, the objectives are to study the validity of Naked-Eye-Single-Tube-Osmotic-Fragility-Test (NES...

The a thalassemias are associated with a decrease in a chain synthesis. Hemoglobin H (HbH) disease is a moderately severe form of a thalassemia characterized by the production of 5%-20% of HbH, while a thalassemia trait is a milder form of a thalassemia. In two patients with HbH disease, the ratio of a chain synthesis to fi chain synthesis (a/fl ratio) was decreased in both bone marrow cells an...

A total of 124 chromosomes of 64 unrelated Indian βthalassemia and β-thalassemia patients along with their family members were studied for their haplotype pattern and mutations. These included, 35 with βthalassemia major, 4 with thalassemia trait, and 25 with β-thalassemia. Fourteen mutations were detected by PCR and Sequencing. The most common mutation IVS1-5 (G-C) was linked with 8 different ...