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 |
GM17084 [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
|
Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
|
Sample Source
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DNA from LCL
|
Race
|
Asian
|
Ethnicity
|
FILIPINO
|
Family Member
|
2
|
Relation to Proband
|
mother
|
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 |
Fil Type Deletion |
Remarks |
Filipino; fetus (GM10796 and 10797 Fibroblast) with hydrops fetalis; microcytic anemia; alpha-1 thalassemia heterozygote; has the total Filipino deletion (--FIL/alpha alpha). |
Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002 |
PubMed ID: 12196404 |
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