Description:
SICKLE CELL ANEMIA
|
Repository
|
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 |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically healthy; sickle cell trait; 2-3 episodes of epistaxis per week from age 8 to 11 years; type II diabetes diagnosed in adulthood; hemoglobin electrophoresis results: HbA = 61.4%, HbA2 = 3.8%, HbF = 0%, HbS = 34.8%; hemoglobin = 11.1 g/dl; MCV = 77.2.
|
| Chang MM, Natoli ME, Wilkinson AF, Tubman VN, Airewele GE, Richards-Kortum RR, A multiplexed, allele-specific recombinase polymerase amplification assay with lateral flow readout for sickle cell disease detection Lab on a chip24:4115-4127 2024 |
| PubMed ID: 39051493 |
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