Ontology highlight
ABSTRACT:
SUBMITTER: Olivieri NF
PROVIDER: S-EPMC3237252 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Olivieri Nancy F NF Pakbaz Zahra Z Vichinsky Elliott E
The Indian journal of medical research 20111001
Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal mana ...[more]