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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2-3
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pubmed:dateCreated |
1993-1-21
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pubmed:abstractText |
We have identified 7 patients with Hb H disease as homozygotes for a mutation in the polyadenylation site (AATAAA-->AATAAG) and have compared their hematological data with those of Hb H patients having other types of alpha-thalassemia determinants. All 7 patients exhibited moderate anemia with microcytosis and hypochromia being similar to that observed in the other patients. Relatives with a heterozygosity for this mutation are borderline microcytic and hypochromic without a significant anemia but with a low in vitro alpha/beta chain synthesis ratio. Analyses of the hemoglobin components identified low levels of Hb A2 and Hb H that were comparable to those found in other patients with Hb H disease; the level of the zeta-chain was low (average 0.14%).
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0001-5792
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
88
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
82-5
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:1281602-Adolescent,
pubmed-meshheading:1281602-Adult,
pubmed-meshheading:1281602-Base Sequence,
pubmed-meshheading:1281602-Child,
pubmed-meshheading:1281602-Consanguinity,
pubmed-meshheading:1281602-Erythrocyte Indices,
pubmed-meshheading:1281602-Female,
pubmed-meshheading:1281602-Fetal Hemoglobin,
pubmed-meshheading:1281602-Globins,
pubmed-meshheading:1281602-Hemoglobin A2,
pubmed-meshheading:1281602-Hemoglobin H,
pubmed-meshheading:1281602-Heterozygote,
pubmed-meshheading:1281602-Homozygote,
pubmed-meshheading:1281602-Humans,
pubmed-meshheading:1281602-Male,
pubmed-meshheading:1281602-Molecular Sequence Data,
pubmed-meshheading:1281602-Mutation,
pubmed-meshheading:1281602-Poly A,
pubmed-meshheading:1281602-alpha-Thalassemia
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pubmed:year |
1992
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pubmed:articleTitle |
Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations.
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pubmed:affiliation |
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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