Description:
HEMOGLOBIN--BETA LOCUS; HBB
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| 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
|
White
|
|
Ethnicity
|
MIDDLE EASTERN
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; hemoglobin 10.2g/dl; MCV 58fl; electrophoresis: A-91%, F-9%; reticulocytes 54 x 10 9/L; Hb A 2-5.9%; no Heinz bodies observed |
| dbSNP |
dbSNP ID: 16609 |
| Gene Cards |
HBB |
| Gene Ontology |
GO:0005344 oxygen transporter activity |
|
GO:0005833 hemoglobin complex |
|
GO:0006810 transport |
|
GO:0015671 oxygen transport |
| NCBI Gene |
Gene ID:3043 |
| NCBI GTR |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
| OMIM |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
| Omim Description |
BETA-THALASSEMIAS, INCLUDED |
| |
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE, INCLUDED |
| |
ERYTHREMIA, BETA-GLOBIN TYPE, INCLUDED |
| |
HEINZ BODY ANEMIAS, BETA-GLOBIN TYPE, INCLUDED |
| |
HEMOGLOBIN--BETA LOCUS; HBBSICKLE CELL ANEMIA, INCLUDED |
| |
METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED |
|
|