منابع مشابه
Alpha thalassaemia and extended alpha globin genes in Sri Lanka.
The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β thalassaemia in Sri Lanka. As well as the common deletion forms of α(+) thalassaemia three families from an ethnic minority were found to carry a novel form of α(0) thalassaemia, one family carried a previously reported form of α(0) thalassaemia, --(THAI), and five families had d...
متن کاملAlpha thalassaemia-mental retardation, X linked
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients ...
متن کاملAlpha thalassaemia - mental retardation , X linked Richard
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients ...
متن کاملAlpha Thalassaemia: Experience of Referral Cases in Kolkata, India
Haemoglobinopathies and different forms of thalassaemias including alpha thalassaemia has been found to be as high as 10% in Eastern India. The alpha globin disorders are less commonly reported because the diagnosis of alpha thalassaemia is usually missed unless in the severe homozygous form or as Hb Barts. But presence of alpha gene has been found in cases of unexplained anaemias and also in s...
متن کاملIntrathoracic extramedullary haematopoiesis complicated by massive haemothorax in alpha-thalassaemia.
Intrathoracic extramedullary haematopoiesis (EMH) is a rare entity that is usually asymptomatic. A 44 year old man with alpha-thalassaemia is described who developed dyspnoea and massive left sided haemothorax. The haemoglobin disorder was established by Hgb H staining and haemoglobin electrophoretic studies. The DNA analysis revealed it to be a case of double heterozygous terminal codon mutati...
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ژورنال
عنوان ژورنال: BMJ
سال: 1985
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.290.6478.1303