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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1994-8-19
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pubmed:abstractText |
We describe a Canadian infant of Jamaican descent who presented with mild anemia. Hb electrophoresis revealed Hb S and an unknown Hb variant that migrated slightly faster than Hb S on cellulose acetate. Molecular studies of the family indicated that the proband is a compound heterozygote for Hb S and Hb Caribbean. Hb Caribbean has previously been characterized as a mildly unstable hemoglobin with low oxygen affinity, due to a Leu-->Arg substitution at amino acid residue 91. The present study establishes the molecular basis for Hb Caribbean (beta 91, CTG-->CGG) and confirms that Hb S/Hb Caribbean syndrome is not associated with serious clinical manifestations.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0361-8609
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
33-5
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:8042613-Adult,
pubmed-meshheading:8042613-Base Sequence,
pubmed-meshheading:8042613-DNA,
pubmed-meshheading:8042613-Female,
pubmed-meshheading:8042613-Genetic Variation,
pubmed-meshheading:8042613-Hemoglobin, Sickle,
pubmed-meshheading:8042613-Hemoglobins, Abnormal,
pubmed-meshheading:8042613-Heterozygote,
pubmed-meshheading:8042613-Humans,
pubmed-meshheading:8042613-Infant,
pubmed-meshheading:8042613-Jamaica,
pubmed-meshheading:8042613-Male,
pubmed-meshheading:8042613-Molecular Sequence Data
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pubmed:year |
1994
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pubmed:articleTitle |
DNA diagnosis of Hb S and Hb Caribbean (alpha 2 beta 2 91 Leu-->Arg) in a Jamaican family.
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pubmed:affiliation |
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
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pubmed:publicationType |
Journal Article,
Case Reports
|