Description:
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
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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 |
GM17085 [HEMOGLOBIN--ALPHA LOCUS 1; HBA1] |
| 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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Asian
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Ethnicity
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FILIPINO
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Family Member
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3
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Relation to Proband
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father
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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 |
| |
| Gene |
HBA1 |
| Chromosomal Location |
16pter-p13.3 |
| Allelic Variant 1 |
; ALPHA-THALASSEMIA TYPE 1 |
| Identified Mutation |
SEA Type Deletion |
| Remarks |
Filipino; fetus (GM10796 and 10797 Fibroblast) with hydrops fetalis; asymptomatic; alpha-1 thalassemia heterozygote (--SEA/alpha alpha). |
| Ho SS, Chong SS, Koay ES, Chan YH, Sukumar P, Chiu LL, Wang W, Roy A, Rauff M, Su LL, Biswas A, Choolani M, Microsatellite Markers within --SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis Clinical chemistry53:173-9 2006 |
| PubMed ID: 17158194 |
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