HE HUMAN a-globin locus is located on chromosome 16 and is arranged in the order of ($(aa.’ The common molecular mechanism giving rise to a-thalassemia is caused by deletion of the a-globin structural genes. Because the a-globin genes are duplicated, a-thalassemia could result in three phenotypes. When one of the four a-globin genes in the diploid genome is deleted (-a/aa), a clinically silent ...

CONTEXT The prognosis of severe aplastic anemia has improved since the introduction of bone marrow transplantation and treatment with antithymocyte globulin. In contrast to the success of these protocols, studies with long term follow-up have shown the occurrence of clonal diseases such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome and acute leukemia in aplastic anemia. CAS...

We have disrupted the 5' locus of the duplicated adult alpha-globin genes by gene targeting in the mouse embryonic stem cells and created mice with alpha-thalassemia syndromes. The heterozygous knockout mice (.alpha/alpha alpha) are asymptomatic like the silent carriers in humans whereas the homozygous knockout mice (.alpha/.alpha) show hemolytic anemia. Mice with three dysfunctional alpha-glob...

Alpha-thalassemia is a hereditary disease with a worldwide distribution characterized by reduced or absent synthesis of hemoglobin chains. Deletions involving the globin genes, which are duplicated ( 2 and 1) and located in the cluster (16p13.3), are the most common causes of the disease and account for over 80% of cases. Loss of a functional gene in the haploid genome results in +-thalassemia,...

Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied α-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H dise...

1. Imamura T, Fujita S, Ohta Y, Hanada M, Yanase T. Hemoglobin Yoshizuka (G10(108) β asparagine → aspartic acid): a new variant with a reduced oxygen affinity from a Japanese family. J Clin Invest 1969; 48:2341–8. 2. Moo-Penn WF, Wolff JA, Simon G, Vacek M, Jue DL, Johnson MH. Hemoglobin Presbyterian: β108 (G10) asparagine leads to lysine, a hemoglobin variant with low oxygen affinity. FEBS Let...

BUMC PROCEEDINGS 2002;15:86–90 CASE PRESENTATION LINDA S. BANG, MD: A 41-year-old African American woman with sickle cell disease presented to the Baylor University Medical Center emergency department with dyspnea and dry cough for 3 weeks and back, leg, and chest pain for 2 to 3 days. The hemoglobin SC disease had been first diagnosed during pregnancy. Pleural tuberculosis with a left-sided ef...

abstract background iron-deficiency anemia is a widespread public health problem with major consequences for human health especially, children. however, in a fraction of patients an underlying cause is never found during routine investigation. recent studies have suggested an association between helicobacter pylori (h. pylori) infection and iron-deficiency anemia. case presentation here is repo...