Article
Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
Pediatric blood & cancer - 1 Feb 2008
Basran Raveen K, Reiss Ulrike M, Luo Hong-Yuan, Ware Russell E, Chui David H K
Abstract excerpt
An 8-year-old African-American boy had a clinical history consistent with mild beta-thalassemia intermedia with moderate anemia, microcytosis, reticulocytosis, and splenomegaly. He was asymptomatic and did not require transfusion. At age 4 years, hemoglobin (Hb) electrophoresis showed Hb A = 37.8%, Hb A(2) = 5.0%, and Hb F = 56.1%. At age 8 years, he was diagnosed to be a compound heterozygote for two beta-globin...
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