Journal
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
Volume 32, Issue 2, Pages 177-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.hoc.2017.11.003
Keywords
Thalassemia; Globin genes; Hemoglobin; Gene regulation; Phenotype-genotype; Genetic modifiers; alpha-Globin
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Funding
- Medical Research Council [G1000801b, MC_UU_12009/4, G1000801e, MC_PC_15069, MC_U137961144, MC_U137961145, MC_UU_00016/4, G1000801, G1000801j] Funding Source: researchfish
- MRC [MC_U137961145, G1000801, MC_U137961144, MC_PC_15069, MC_UU_00016/4, MC_UU_12009/4] Funding Source: UKRI
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Thalassemia is a disorder of hemoglobin characterized by reduced or absent production of one of the globin chains in human red blood cells with relative excess of the other. Impaired synthesis of beta-globin results in beta-thalassemia, whereas defective synthesis of alpha-globin leads to alpha-thalassemia. Despite being a monogenic disorder, thalassemia exhibits remarkable clinical heterogeneity that is directly related to the intracellular imbalance between alpha- and beta-like globin chains. Novel in-sights into the genetic modifiers have contributed to the understanding of the correlation between genotype and phenotype and are being explored as therapeutic pathways to cure this life-limiting disease.
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