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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1996-12-11
|
| pubmed:abstractText |
Several different deletions underlie the molecular basis of alpha-thalassemia. The most common alpha-thalassemia determinant in Spain is the rightward deletion (-alpha 3.7). To our knowledge, however, no cases of alpha-thalassemia due to nondeletional mutations have so far been described in this particular Mediterranean area. Here, we report the existence of nondeletional forms of alpha-thalassemia in ten Spanish families. The alpha 2-globin gene was characterized in ten unrelated patients and their relatives only when the presence of deletional alpha-thalassemia was ruled out. The alpha 2-globin gene analysis was performed using the polymerase chain reaction (PCR) followed by restriction enzyme analysis or by allelespecific priming. This allowed the identification of a 5-base pair (bp) deletion at the donor site of IVS I (alpha Hph alpha) in 9 cases and the alpha 2 initiation codon mutation (alpha Nco alpha) in one case. Although these alpha 2-globin gene mutations are found in other mediterranean areas, our results demonstrate their presence in the Spanish population and suggest that the alpha Hph alpha/alpha alpha genotype is probably the most common nondeletional form of alpha-thalassemia in Spain.
|
| pubmed:grant | |
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0361-8609
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
52
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
144-9
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:8756078-Adolescent,
pubmed-meshheading:8756078-Adult,
pubmed-meshheading:8756078-Aged,
pubmed-meshheading:8756078-Alleles,
pubmed-meshheading:8756078-Base Sequence,
pubmed-meshheading:8756078-Child, Preschool,
pubmed-meshheading:8756078-DNA Restriction Enzymes,
pubmed-meshheading:8756078-Female,
pubmed-meshheading:8756078-Gene Deletion,
pubmed-meshheading:8756078-Heterozygote,
pubmed-meshheading:8756078-Humans,
pubmed-meshheading:8756078-Male,
pubmed-meshheading:8756078-Molecular Probes,
pubmed-meshheading:8756078-Molecular Sequence Data,
pubmed-meshheading:8756078-Mutation,
pubmed-meshheading:8756078-Polymerase Chain Reaction,
pubmed-meshheading:8756078-Spain,
pubmed-meshheading:8756078-alpha-Thalassemia
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population.
|
| pubmed:affiliation |
Hematology Laboratory Department, Hospital Clínic i Provincial, Postgraduate School of Hematology Farreras Valentí, University of Barcelona, Catalonia, Spain.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
|