Gene probes can now be used to detect a variety of mutations that produce single-gene disorders. In present clinical practice, restriction endonuclease analysis is used for the prenatal diagnosis of sickle cell anemia, alpha-thalassemia, and beta-thalassemia. Direct detection of the mutation is possible in alpha-thalassemia, where a deletion has usually occurred, and in sickle cell anemia, wher...

Sickle cell disease (SCD) is a heterogeneous inherited disorder of hemoglobin that causes chronic hemolytic anemia, vaso-occlusion, and endothelial dysfunction. These physiologic derangements often lead to multiorgan damage in infancy and throughout childhood. The most common types of SCD are homozygous hemoglobin S (HbSS disease), hemoglobin SC disease, and sickle β thalassemia. HbSS disease a...

The alpha globin genotype of a total of 282 Indians from Orissa state has been analyzed. The overall alpha thalassemia gene frequency is 0.29, most frequently caused by the -alpha 3.7 and -alpha 4.2 deletions. In one family a novel -alpha 3.5 deletion removing the alpha 1 globin gene with some of its flanking sequences has been found, suggesting further sequence homology of the alpha globin gen...

This study focused on clinical, hematological, and molecular aspects of sickle cell anemia pediatric patients from two different cites in Brazil. Seventy-one patients from São Paulo and Salvador, aged 3 to 18 years, were evaluated. Hematological analyses, βS globin gene haplotypes, and α2 3.7kb-thalassemia were performed. Numbers of hospitalizations due to vaso-occlusive crises, infections, str...

The relationships among hemoglobin concentration (Hb). red cell 2.3-diphosphoglycerate (2,3-DPG), and p50 were studied in 20 chronically hypertransfused patients with thalassemia major. In the nontransfused control group. which included normal individuals as well as patients with sickle cell disease or iron deficiency anemia. the Hb correlated inversely with both 2.3-DPG concentration and p50. ...

The relationships among hemoglobin concentration (Hb). red cell 2.3-diphosphoglycerate (2,3-DPG), and p50 were studied in 20 chronically hypertransfused patients with thalassemia major. In the nontransfused control group. which included normal individuals as well as patients with sickle cell disease or iron deficiency anemia. the Hb correlated inversely with both 2.3-DPG concentration and p50. ...

The characteristic clinical heterogeneity of sickle cell anemia (HbSS) may be, in part, a result of its interactions with alpha-thalassemia. Although alpha-thalassemia clearly affects some hematologic features of HbSS, its role in modulating the vasoocclusive severity of disease is not clear. To further explore this relationship, we examined the incidence of painful episodes, acute chest syndro...

Beta thalassemia is a common monogenic disorder caused by partial or complete reduction of beta globin chains synthesis. In recent years allogeneic bone marrow transplantation (BMT) has been considered to be the successful cure for patients with major, however this restricted due limited number HLA-matched donors. Therefore, molecular approaches including gene therapy direct normal transmission...

background: molecular genetic factors regulating hemoglobin f (hb f) expression are important modifiers of the severity of sickle cell anemia (ss).   methods: the prevalence of xmni polymorphic site, the g g: a g ratio and the hb f level were determined using pcr-rflp procedure, hplc and alkaline denaturation method, respectively, in various haplotypes of 52 patients with ss, 18 patients with s...