Description:
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
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 |
| 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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GREEK
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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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 and by Chromosome Analysis |
| |
| Remarks |
Greek; double heterozygote for hereditary persistence of fetal hemoglobin & B-thalassemia trait; 46,XX; 24% of cells show random chromosome loss; 15% are polyploid; A-gamma globin chain synthesis predominates |
| Tuan D, Murnane MJ, deRiel JL, Forget BG, Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. Nature285:335-7 1980 |
| PubMed ID: 6154897 |
| |
| Fessas, Hereditary persistence of fetal hemoglobin in Greece. A study and a comparison. Blood24:223 (1964):335-7 1964 |
| PubMed ID: 6154897 |
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