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NA20744 DNA from LCL

Description:

HEMOGLOBIN--ALPHA LOCUS 1; HBA1
HEMOGLOBIN--BETA LOCUS; HBB

Affected:

No

Sex:

Male

Age:

28 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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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 Black/African American
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically healthy; hemoglobin C/alpha-thalassemia trait; hemoglobin electrophoresis results: HbA = 61%, HbA2 = 3.7%, HbF = 0%, HbS = 0%, HbC = 35.7%; hemoglobin = 15.6 g/dl; MCV = 76.8.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 

Phenotypic Data

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Remarks Clinically healthy; hemoglobin C/alpha-thalassemia trait; hemoglobin electrophoresis results: HbA = 61%, HbA2 = 3.7%, HbF = 0%, HbS = 0%, HbC = 35.7%; hemoglobin = 15.6 g/dl; MCV = 76.8.

External Links

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Gene Cards HBA1
HBB
Gene Ontology GO:0005344 oxygen transporter activity
GO:0005515 protein binding
GO:0005833 hemoglobin complex
GO:0006810 transport
GO:0015671 oxygen transport
NCBI Gene Gene ID:3039
Gene ID:3043
NCBI GTR 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1
141900 HEMOGLOBIN--BETA LOCUS; HBB
OMIM 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1
141900 HEMOGLOBIN--BETA LOCUS; HBB
Omim Description 3-PRIME @ALPHA-GLOBIN GENE
  ERYTHREMIA, ALPHA-GLOBIN TYPE, INCLUDED
  HEINZ BODY ANEMIAS, ALPHA-GLOBIN TYPE, INCLUDED
  HEMOGLOBIN--ALPHA LOCUS 1; HBA1
  METHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED
  MINOR ALPHA-GLOBIN LOCUSALPHA-THALASSEMIAS, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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Same Subject
  • GM20744 - B-Lymphocyte
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