Description:
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
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 |
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
|
Ethnicity
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FILIPINO
|
Family Member
|
3
|
Relation to Proband
|
father
|
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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