Recently, the small protein alpha hemoglobin-stabilizing protein (AHSP) was identified and found to specifically bind alpha-globin, stabilize its structure, and limit the toxic effects of excess alpha-globin, which are manifest in the inherited blood disorder beta thalassemia. In this issue of the JCI, Yu, Weiss, and colleagues show that AHSP is also critical to the formation and stabilization ...

The life threatening anemia in /3-thalassemia major (Cooley's anemia) is characterized by profound intramedullary lysis, the cause of which is incompletely understood. Using marrow obtained from beta thalassemia major patients undergoing allogeneic bone marrow transplantation in Pesaro Italy, it became possible to directly study the mechanism of the intramedullary hemolysis. Based on our previo...

Synthesis of globin chains in bone the heterozygotes, there was a signifimarrow and peipheral blood samples cant defect in beta synthesis in the from a black family with mild beta peripheral blood of white subjects, thalassemia was compared with simiwhile in two of three black patients the lar studies in white people. Blood and P/ ratio was in the normal range. Albone marrow were incubated with...

To define the quality and relative quantity of beta and alpha messenger RNA in human nonthalassemic and thalassemic reticulocytes, intact cells were incubated with [(35)S]methionine. The relative amounts of beta- and alpha-nascent chains on polysomes of different sizes were measured by tryptic digestion of pooled polysomes and by determination of the specific activities of beta and alpha peptid...

Thalassemia is anemia of variable severity, arising from mutations of genes encoding the hemoglobin alpha and beta chains. Severe thalassemia is associated with iron overload, tissue lesions, and high risk for cardiovascular complications, and iron-mediated cardiomyopathy is the main cause of death in this condition. Thalassemia major (TM) patients exhibit cardiovascular abnormalities consisten...

Seven unrelated patients with hemoglobin (Hb) H disease and 27 individuals with alpha-chain structural alterations were studied to identify the alpha-globin gene mutations present in the population of Southeast Brazil. The -alpha3.7, --MED and -(alpha)20.5 deletions were investigated by PCR, whereas non-deletional alpha-thalassemia (alphaHphalpha, alphaNcoIalpha, alphaalphaNcoI, alphaIcalpha an...

alpha-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. alpha-thalassemia-23.7kb (alpha-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women - 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were alpha-Thal23.7kb het...

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...