Beta-thalassemia is caused by the reduced (beta+) or absent (beta0) synthesis of the beta globin chains of the hemoglobin tetramer. Three clinical and hematological conditions of increasing severity are recognized, i.e., the beta-thalassemia carrier state, thalassemia intermedia, and thalassemia ma...
The propositus, a child, has hemoglobin D-beta(0) thalassemia, and suffers from moderately severe hemolytic anemia. The father has beta-thalassemia trait, and the mother is heterozygous for hemoglobin D-Los Angeles. This, the eighth confirmed case in the medical literature, is reported to ...
Arous N, Galacteros F, Fessas P, Loukopoulos D, Blouquit Y, Komis G, Sellaye M, Boussiou M, Rosa J: Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia. FEBS Lett. 1982 Oct 18;147(2):247-50. ...
Hemoglobinopathies and Thalassemias John Old, in Emery and Rimoin's Principles and Practice of Medical Genetics (Sixth Edition), 2013 71.2.1 Primary and Secondary Structures The primary structure of each globin chain is its amino acid sequence; it is composed of 141 amino acids in α- and...
Ayi, K.et al.Enhanced phagocytosis of ring-parasitized mutant erythrocytes: A common mechanism that may explain protection againstFalciparumMalaria in sickle trait and beta-thalassemia trait.Blood104(10), 3364–3371.(2004). PubMedGoogle Scholar ...
IVS-1 nt 5 (G-->C) interacts with the codon 26 (G-->A) mutation to produce E beta-thalassemia phenotype in the samples from West Bengal, India. 展开 关键词: Hemoglobin E Mutation beta-Thalassemia 血红蛋白E 突变 β地中海贫血 DOI: 10.1046/j.1365-2516.1997.00124.x ...
Here we report the result of three cases referred to our lab that had a combination of β-thalassemia and hemoglobin D (Hb D) traits. These individuals had no symptoms of profound anemia and hematological indices were similar to that of ... MT Basmanj,M Karimipoor,A Amirian,... - 《Ar...
Hemoglobin S–Beta-Thalassemia Disease - Hematology and Oncology - Merck Manuals Professional EditionBRAUNSTEIN.EVAN
A new form of thalassemia intermedia: Compound heterozygous beta thalassemia and hemoglobin Zurichdoi:10.1002/pbc.27720Yan, Carol L.S.Chan, Nelson C. N.Lam, Grace K. S.Ng, Ka Y.Cheng, Chi K.Li, Chi‐KongJohn Wiley and SonsPediatric Blood & Cancer...
Hemoglobin synthesis in a 34-year-old man of Laotian ancestry with Hb E/β°-thalassemia was studied. Hemoglobin electrophoresis exhibited only Hb F and Hb E. Reticulocytes and bone marrow cells showed no Hb A synthesis. The proportion o... U Testa,A Dubart,N Hinard,... - 《Acta Haem...