Description:
BETA-THALASSEMIA
HEMOGLOBIN--BETA LOCUS; HBB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Alternate IDs |
GM17325 [BETA-THALASSEMIA] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ITALIAN
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Family Member
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2
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Relation to Proband
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spouse
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0360; BETA-PLUS-THALASSEMIA |
| Identified Mutation |
IVS1, T>C, +6; T-to-C change at position 6 of the donor site consensus sequence of IVS-1 (CAG-GTTGGT to CAG-GTTGGC) was found in a Mediterranean patient by Orkin et al. (1982).
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
141900.0346; BETA-ZERO-THALASSEMIA |
| Identified Mutation |
IVS1, G>A, +1; Splice junction mutant, G to A, position 1 of IVS-1, was found by Orkin et al. (1982) in a Mediterranean patient.
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| Remarks |
Italian; B-thalassemia: donor subject is a compound heterozygote: one allele has a T>C change at position 6 of the donor site consensus sequence of intron 1 in the HBB gene [IVS1,T>C,+6 (beta plus)]; the second allele has a splice junction mutation, a G>A change at position 1 in intron 1 [IVS1,G>A,+1 (beta zero)] |
| Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ, Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature296:627-31 1982 |
| PubMed ID: 6280057 |
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