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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
|
pubmed:dateCreated |
1984-6-6
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pubmed:abstractText |
Restriction endonuclease mapping with alpha and zeta-globin gene probes showed differences between the alpha-thalassemia-1 (alpha-thal-1) condition in two patients with HbH disease. One patient had the rare black type of alpha-thal-1 together with alpha-thal-2 and HbS heterozygosities. The second patient was a Laotian child with HbE, Hb Constant Spring (alpha-thal-2), and alpha-thal-1 heterozygosities. The diagnoses were based on clinical, hematologic, and biochemical data. Whereas DNA fragments hybridizing to a zeta-probe were obtained from the Laotian type of alpha-thal-1, neither alpha nor zeta-gene fragments could be identified deriving from the black type of alpha-thal-1. Therefore, the black type of alpha-thal-1 is associated with a deletion of the entire zeta 2-psi zeta-psi alpha-alpha 2-alpha 1 gene complex and can be considered a zeta alpha-thal-1. It is likely that homozygosity for such a condition will lead to embryonic wastage, explaining the absence of hydrops fetalis in blacks.
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pubmed:grant | |
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0006-4971
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
63
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1253-7
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:6713099-African Continental Ancestry Group,
pubmed-meshheading:6713099-Child,
pubmed-meshheading:6713099-Child, Preschool,
pubmed-meshheading:6713099-DNA,
pubmed-meshheading:6713099-Female,
pubmed-meshheading:6713099-Genes,
pubmed-meshheading:6713099-Georgia,
pubmed-meshheading:6713099-Globins,
pubmed-meshheading:6713099-Hemoglobin E,
pubmed-meshheading:6713099-Heterozygote Detection,
pubmed-meshheading:6713099-Humans,
pubmed-meshheading:6713099-Laos,
pubmed-meshheading:6713099-Male,
pubmed-meshheading:6713099-Thalassemia
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pubmed:year |
1984
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pubmed:articleTitle |
The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Case Reports
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