A phase 2 study of HQK-1001, an oral fetal haemoglobin inducer, in β-thalassaemia intermedia
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چکیده
منابع مشابه
β-Thalassaemia intermedia masquerading as β-thalassaemia major.
To cite: Singh A, Varma S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-207637 DESCRIPTION A 19-year-old man presented with dysmorphic facies, progressive fatigability and exertional breathlessness from the age of 15 years. On examination the patient had classical ‘Chipmunk facies’ (figure 1), short stature, delayed puberty and mild splenomegaly. X-ray of...
متن کاملThalassaemia Intermedia: an Update
Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassaemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassaemia phenotypes. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of ...
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Beta thalassaemia is an autosomal recessive inherited blood disorder which results in abnormal formation of Haemoglobin molecule and ineffective erythropoiesis. Patients need to be dependent on habitual blood transfusion and on unaffordable exorbitant therapies for continued existence. It has been hypothesized that if the level of foetal Haemoglobin increases, it compensates the need of adult H...
متن کاملThalassaemia intermedia: a genetic study in 11 patients.
Beta-thalassaemia is a hereditary defect in the synthesis of beta-polypeptide chains of haemoglobin. Most patients with beta-thalassaemia can be classified, both genetically and haematologically, into those with the homozygous form of the disease, and those with the heterozygous disease or thalassaemia minor. However, in clinical practice one occasionally encounters a patient with thalassaemia ...
متن کاملThalassaemia Intermedia : A Genetic Study in 11 Patients TABLE
Beta-thalassaemia is a hereditary defect in the synthesis of beta-polypeptide chains of haemoglobin. Most patients with beta-thalassaemia can be classified, both genetically and haematologically, into those with the homozygous form of the disease, and those with the heterozygous disease or thalassaemia minor. However, in clinical practice one occasionally encounters a patient with thalassaemia ...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2013
ISSN: 0007-1048
DOI: 10.1111/bjh.12635