Related to Beta thalassaemia:thalassemia major,Thalassemia intermedia,Thalassemia minor thal·as·se·mi·a (thăl′ə-sē′mē-ə) n. An inherited form of anemia occurring chiefly among people of Mediterranean descent, caused by faulty synthesis of part of the hemoglobin molecule. Also called...
At birth, a baby with thalassemia major seems entirely normal. This is because the predominant hemoglobin at birth is still fetal hemoglobin (HbF). HbF has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from t...
Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at ...
Rojnuckarin P, Settapiboon R, Vanichsetakul P, Sueblinvong T, Sutcharitchan P (2007) Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene. Am J Hematol 82(7):663-665. doi: 10.1002/ajh.20816...
Beta-thalassemia (β-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analy...
In beta-thalassemia syndromes, hematologic findings at birth are normal and only manifest after 6 months of life. Alpha chain defects A large spectrum of alpha-thalassemia syndromes occurs in the newborn and they are discussed in the chapter on hemoglobinopathies (Chapter 9: Hemoglobinopathies)...
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...
Cord blood study on β-thalassemia and hemoglobin E. Am J Med Genet 1988; 29: 49-57.Pootrakul, S., Muang-sup, V., Fucharoen, S., and Wasi, P. (1988). Cord blood study on beta-thalassemia and hemoglobin E. Am. J. Med. Genet. 29 :49....
Winichagoon P, Blouquit Y, Riou J, Wasi P, Galacteros F: Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val---Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. Am J Hematol. 1990 Oct;35(2):96-9. [Article] ...
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 ...