α-thalassaemia
نویسندگان
چکیده
منابع مشابه
α-thalassaemia
Thalassaemia is one of the most common genetic diseases worldwide, with at least 60,000 severely affected individuals born every year. Individuals originating from tropical and subtropical regions are most at risk. Disorders of haemoglobin synthesis (thalassaemia) and structure (eg, sickle-cell disease) were among the first molecular diseases to be identified, and have been investigated and cha...
متن کاملDoes α +-Thalassaemia Protect against Malaria?
E ver since Haldane proposed in 1949 that thalassaemia might protect individuals against the scourge of malaria [1], the challenge has been to provide supporting evidence—be it at the cellular, clinical, or epidemiological level. The general topic of human red cell polymorphisms and malarial protection has attracted enormous interest, largely because this subject provides the most compelling ex...
متن کاملMolecular Characterization of α- and β-Thalassaemia among Malay Patients
Both α- and β-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α- and β-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 α-thalassaemia determinants and 20 β-thalassaemia mutations in 28 and 40 unrelated Malays, respec...
متن کاملα-thalassaemia combined with hereditary spherocytosis in the same patient
A family of four from the Guangxi Zhuang Autonomous Region of China, including a child with α-thalassaemia and hereditary spherocytosis (HS), underwent laboratory identification, and genetic analysis. After harvesting peripheral blood samples from the child patient and his family members, GAP-polymerase chain reaction (PCR) and reverse dot-blot tests were used to identify thalassaemia genotypes...
متن کاملIncreased Microerythrocyte Count in Homozygous α+-Thalassaemia Contributes to Protection against Severe Malarial Anaemia
BACKGROUND The heritable haemoglobinopathy alpha(+)-thalassaemia is caused by the reduced synthesis of alpha-globin chains that form part of normal adult haemoglobin (Hb). Individuals homozygous for alpha(+)-thalassaemia have microcytosis and an increased erythrocyte count. Alpha(+)-thalassaemia homozygosity confers considerable protection against severe malaria, including severe malarial anaem...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2010
ISSN: 1750-1172
DOI: 10.1186/1750-1172-5-13