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4 results on '"Khan, Shaheen N."'

1. Multicenter Study of the Molecular Basis of Thalassemia Intermedia in Different Ethnic Populations

Author

Verma, Ishwar C., primary, Kleanthous, Marina, additional, Saxena, Renu, additional, Fucharoen, Suthat, additional, Winichagoon, Pranee, additional, Raizuddin, Sheikh, additional, Khan, Shaheen N., additional, Akbari, Mohammad T., additional, Izadyar, Mina, additional, Kotea, Navratnam, additional, Old, John M., additional, Ioannou, Panayiotis A., additional, and Khan, Baldip, additional

Published
2007
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3. A MULTI-CENTER STUDY IN ORDER TO FURTHER DEFINE THE MOLECULAR BASIS OF β-THALASSEMIA IN THAILAND, PAKISTAN, SRI LANKA, MAURITIUS, SYRIA, AND INDIA, AND TO DEVELOP A SIMPLE MOLECULAR DIAGNOSTIC STRATEGY BY AMPLIFICATION REFRACTORY MUTATION SYSTEM-POLYMERASE CHAIN REACTION

Author

Old, John M., primary, Khan, Shaheen N., additional, Verma, Ishwar, additional, Fucharoen, Suthat, additional, Kleanthous, Marina, additional, Ioannou, Panos, additional, Kotea, Navaratnam, additional, Fisher, Christopher, additional, Riazuddin, Sheikh, additional, Saxena, Renu, additional, Winichagoon, Pranee, additional, Kyriacou, Kyriacos, additional, Al-Quobaili, Faizeh, additional, and Khan, Baldip, additional

Published
2001
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4. Molecular characterization of alpha-thalassemia in Pakistan.

Author

Khan SN, Hasan F, Sollaino C, Perseu L, and Riazuddin S

Subjects
DNA Mutational Analysis, Ethnicity, Gene Deletion, Gene Duplication, Gene Frequency, Genotype, Globins genetics, Humans, Pakistan epidemiology, Pakistan ethnology, alpha-Thalassemia epidemiology, alpha-Thalassemia ethnology, Molecular Epidemiology, alpha-Thalassemia genetics
Abstract

Common alpha-thalassemia (thal) rearrangements were studied in a normal random population and in six ethnic groups of Pakistan. Analyses of 204 individuals from the normal population revealed the presence of only the -alpha(3.7) allele with an overall frequency of 8.3%. Ethnic differences were statistically significant for Pashtoon vs. Balochi (p < 0.0005) and Pashtoon vs. Sindhi (p < 0.002). Two hundred and eighty-five thalassemia patients were also studied to identify rare alpha-thal alleles. In this group, 24.6% of the patients had one or two alpha genes deleted. Two rare alleles in the Pakistani population, -alpha(4.2) (0.2%) and alphaalphaalpha(anti3.7) (0.9%), were identified in these patients. The -alpha(4.2) allele was found only in Sindhis, while alphaalphaalpha(anti3.7) was present in Punjabis, Sindhis and Balochis. Five patients with triplicated alpha genes were homozygous for either the beta+ or the beta(0) genotype.

Published
2003
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