نتایج جستجو برای: major thalassaemia
تعداد نتایج: 620506 فیلتر نتایج به سال:
Background and purpose: Mutation in factor V Leiden (R506Q), mutation of G20210Â in prothrombin and mutation of Ç667T in methylenetetrahydrofolate reductase (MTFHR) are part of genetic variant that increase the risk of thrombosis. The purpose of this study was to define the frequencies of three risk factors among thalassaemia major and thalassaemia intermedia compared with the normal subjects...
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background: thalassemia syndromes are the most common genetic disorders in the world. they happen due to genetic defects in process of haemoglobin synthesis, and would be classified to many groups mainly α and β, based on the kind of defect. anemia is the main clinical manifestation of this phenotype of disorder. in order to correct the chronic anemia in thalassaemic individuals, they may need ...
In Southeast Asia α-thalassaemia, β-thalassaemia, haemoglobin (Hb) E and Hb Constant Spring (CS) are prevalent. The abnormal genes in different combinations lead to over 60 different thalassaemia syndromes, making Southeast Asia the locality with the most complex thalassaemia genotypes. The four major thalassaemic diseases are Hb Bart's hydrops fetalis (homozygous α-thalassaemia 1), homozygous ...
During the past few years there have been several reports of thalassaemia occurring in English families (Garrett and Morton, 1960; Callender, Mallett, and Lehmann, 1961; Josse, 1962; Roberts, 1963). All the cases, however, have been of the heterozygous form of the disease (thalassaemia minor and thalassaemia trait). This paper reports the case of an English child with homozygous thalassaemia (t...
BACKGROUND Thalassaemia is a common public health problem in Malaysia and about 4.5 to 6% of the Malays and Chinese are carriers of this genetic disorder. The major forms of thalassaemia result in death in utero of affected foetuses (α-thalassaemia) or life-long blood transfusions for survival in β-thalassaemia. This study, the first nationwide population based survey of thalassaemia in Malaysi...
Pituitary, adrenal, and pancreatic functions were investigated in 9 patients with thalassaemia major. 9 a.m. plasma ACTH values were 148-480 pg/ml (normal range 15-70 pg/ml). Cortisol and growth hormone response to insulin-induced hypoglycaemia was normal in all. 24-hour urinary excretions of 17-ketosteroids and 17-hydroxycorticosteroids were normal. There was normal cortisol response to intram...
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