Article
Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype.
Hemoglobin - 1 Jan 2016
Smith Debra L, Mitui Midori, Park Jason Y, Luu Hung S, Timmons Charles F
Abstract excerpt
β-Thalassemia (β-thal) results from homozygous or compound heterozygous inheritance of β-globin alleles that yield decreased or absent synthesis of the β chain. Disease is frequently severe, requiring lifelong transfusion therapy. Heterozygosity for a β-thal allele results in an asymptomatic carrier state with mild but characteristic hematological findings. More than 200 β-globin alleles have been demonstrated to...
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