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Titlebook: Genetic Disorders of the Indian Subcontinent; Dhavendra Kumar Book 2004 Springer Science+Business Media New York 2004 Chromosom.developing

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Thalassaemias and Other Haemoglobinopathiesof the thalassaemias, characterised by either the reduced synthesis of one or more of the globin chains, and the haemoglobin variants, characterised by the synthesis of a structurally abnormal globin (Weatherall and Clegg, 2001). They form the most common single gene disorder in the world, and are f
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Disorders of Haemostasis and Thrombosisred for, in developing countries, where data on incidence is limited (Nathwani and Tuddenham, 1992). Some haemostasis and thrombosis centres in the UK serve populations with large south Asian groups. The nature and incidence of haemostasis disorder seen in these groups will partly reflect those in t
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Glucose-6-Phosphate Dehydrogenase Deficiency and Other Inherited Red Cell Defects discussed elsewhere in this volume. The remainder, due either to the inadequate activity of one or other red cell enzyme or to a defect in the red cell cytoskeleton, are discussed in this chapter. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is by far the most important disorder in this grou
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Inherited Skeletal Dysplasias and Collagen Diseasesg with limb abnormalities and disproportionate short stature. There are over 100 distinct skeletal dysplasias, which have been classified primarily on the basis of the clinical or radiographic characteristics (International Working Group, 1998). The management of these conditions require a combined
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Genetics Diseases of the Eye in Indiacs’. It was through ophthalmology that some fundamental issues were recognized and understood in genetics. One of the genetic diseases identified very early in human history, in 1796, was protanopia (color blindness). The first genetic disease to be mapped was color vision deficiency to X-chromosome
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Book 2004ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation;
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