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Some Atypical and Rare Sickle Cell Gene Haplotypes in Populations of Andhra Pradesh, India
We have investigated the clinical, hematological, and molecular genetic characteristics of sickle cell anemia patients from 6 populations of Andhra Pradesh, South India. Of 72 sickle cell chromosomes (HBB*S) 60 belong to characteristic Arab-Indian haplotypes, 6 to variant Arab-Indian haplotypes, 1 t...
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Published in: | Human biology 1999-06, Vol.71 (3), p.333-340 |
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description | We have investigated the clinical, hematological, and molecular genetic characteristics of sickle cell anemia patients from 6 populations of Andhra Pradesh, South India. Of 72 sickle cell chromosomes (HBB*S) 60 belong to characteristic Arab-Indian haplotypes, 6 to variant Arab-Indian haplotypes, 1 to a Bantu haplotype, 2 to a Cameroon haplotype, and 3 to rare haplotypes. This is the first report of a Bantu haplotype in an Indian population. Some information on haplotype characteristics of normal chromosomes (HBB*A) is also presented. The average hemoglobin level was 7.3 g% and mean fetal hemoglobin (HbF) level was 12.6%. The higher HbF levels corroborate earlier observations in sickle cell homozygotes from India. Clinical investigations have revealed splenomegaly and painful crises as the most common features in these patients. |
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Of 72 sickle cell chromosomes (HBB*S) 60 belong to characteristic Arab-Indian haplotypes, 6 to variant Arab-Indian haplotypes, 1 to a Bantu haplotype, 2 to a Cameroon haplotype, and 3 to rare haplotypes. This is the first report of a Bantu haplotype in an Indian population. Some information on haplotype characteristics of normal chromosomes (HBB*A) is also presented. The average hemoglobin level was 7.3 g% and mean fetal hemoglobin (HbF) level was 12.6%. The higher HbF levels corroborate earlier observations in sickle cell homozygotes from India. Clinical investigations have revealed splenomegaly and painful crises as the most common features in these patients.</description><identifier>ISSN: 0018-7143</identifier><identifier>EISSN: 1534-6617</identifier><identifier>PMID: 10380370</identifier><identifier>CODEN: HUBIAA</identifier><language>eng</language><publisher>United States: Wayne State University Press</publisher><subject>Adolescent ; Adult ; Anemia, Sickle Cell - ethnology ; Anemia, Sickle Cell - genetics ; Base Sequence ; Blood ; Child ; Child, Preschool ; Chromosomes ; Developing Countries ; European Continental Ancestry Group - genetics ; Female ; Gene Expression ; Genes ; Genetic aspects ; Genetic mutation ; Genetics ; Genetics, Population ; Haplotypes ; Haplotypes - genetics ; Health aspects ; Health risk assessment ; Hemoglobins ; Hemoglobins - analysis ; Hemoglobins - genetics ; Human genetics ; Humans ; India - epidemiology ; Male ; Medical genetics ; Molecular Sequence Data ; Polymerase Chain Reaction ; Population ; Population Surveillance ; Rural Population ; Sampling Studies ; Saudi Arabia - ethnology ; Senegal - ethnology ; Sickle cell anemia ; Sickles</subject><ispartof>Human biology, 1999-06, Vol.71 (3), p.333-340</ispartof><rights>Copyright © 1999 Wayne State University Press</rights><rights>COPYRIGHT 1999 Wayne State University Press</rights><rights>COPYRIGHT 1999 Wayne State University Press</rights><rights>Copyright Wayne State University Press Jun 1999</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/41465743$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/41465743$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,780,784,12847,33223,58238,58471</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10380370$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>NIRANJAN, Y.</creatorcontrib><creatorcontrib>CHANDAK, G.R.</creatorcontrib><creatorcontrib>VEERRAJU, P.</creatorcontrib><creatorcontrib>SINGH, LALJI</creatorcontrib><title>Some Atypical and Rare Sickle Cell Gene Haplotypes in Populations of Andhra Pradesh, India</title><title>Human biology</title><addtitle>Hum Biol</addtitle><description>We have investigated the clinical, hematological, and molecular genetic characteristics of sickle cell anemia patients from 6 populations of Andhra Pradesh, South India. 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Academic</collection><jtitle>Human biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>NIRANJAN, Y.</au><au>CHANDAK, G.R.</au><au>VEERRAJU, P.</au><au>SINGH, LALJI</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Some Atypical and Rare Sickle Cell Gene Haplotypes in Populations of Andhra Pradesh, India</atitle><jtitle>Human biology</jtitle><addtitle>Hum Biol</addtitle><date>1999-06-01</date><risdate>1999</risdate><volume>71</volume><issue>3</issue><spage>333</spage><epage>340</epage><pages>333-340</pages><issn>0018-7143</issn><eissn>1534-6617</eissn><coden>HUBIAA</coden><abstract>We have investigated the clinical, hematological, and molecular genetic characteristics of sickle cell anemia patients from 6 populations of Andhra Pradesh, South India. Of 72 sickle cell chromosomes (HBB*S) 60 belong to characteristic Arab-Indian haplotypes, 6 to variant Arab-Indian haplotypes, 1 to a Bantu haplotype, 2 to a Cameroon haplotype, and 3 to rare haplotypes. This is the first report of a Bantu haplotype in an Indian population. Some information on haplotype characteristics of normal chromosomes (HBB*A) is also presented. The average hemoglobin level was 7.3 g% and mean fetal hemoglobin (HbF) level was 12.6%. The higher HbF levels corroborate earlier observations in sickle cell homozygotes from India. Clinical investigations have revealed splenomegaly and painful crises as the most common features in these patients.</abstract><cop>United States</cop><pub>Wayne State University Press</pub><pmid>10380370</pmid><tpages>8</tpages></addata></record> |
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subjects | Adolescent Adult Anemia, Sickle Cell - ethnology Anemia, Sickle Cell - genetics Base Sequence Blood Child Child, Preschool Chromosomes Developing Countries European Continental Ancestry Group - genetics Female Gene Expression Genes Genetic aspects Genetic mutation Genetics Genetics, Population Haplotypes Haplotypes - genetics Health aspects Health risk assessment Hemoglobins Hemoglobins - analysis Hemoglobins - genetics Human genetics Humans India - epidemiology Male Medical genetics Molecular Sequence Data Polymerase Chain Reaction Population Population Surveillance Rural Population Sampling Studies Saudi Arabia - ethnology Senegal - ethnology Sickle cell anemia Sickles |
title | Some Atypical and Rare Sickle Cell Gene Haplotypes in Populations of Andhra Pradesh, India |
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