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Patients with a homozygous β -thalassemia mutation usually have a transfusion-dependentβ-thalassemia major phenotype. However, some β-thalassemia patients present with a relatively mild and even normal phenotype and always have a high level ofHbF induced by geneticmodifiers. Inthisstudy, we identified a homozygousβ -thalassemia mutation (HBB c.126_129delCTTT) ina36-year-old pregnant woman. She had not presented any clinical symptoms of β-thalassemiasince birth.Toinvestigate her unexpected mild phenotype, known geneticmodifiersthat amelio
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