Anti-Hbg1 Monoclonal Antibody, Clone FQS0819(C) (DCABH-3335) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use

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Anti-Hbg1 monoclonal antibody, clone FQS0819(C) (DCABH-3335) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Product Overview Rabbit monoclonal to fetal hemoglobin Antigen Description The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5-epsilon -- gamma-G -- gamma-A -- delta -- beta--3 Specificity This antibody recognises Hemoglobin gamma-1/2 chain. Immunogen Synthetic peptide (the amino acid sequence is considered to be commercially sensitive) Isotype IgG Source/Host Rabbit Species Reactivity Rat, Human Clone FQS0819(C) Purity Tissue culture supernatant Conjugate Unconjugated Applications WB Positive Control Human red blood cell and K562 cell lysates; Human spleen and lung tissues. Format Liquid Size 100 μl Buffer Preservative: 0.01% Sodium azide; Constituents: 50% Glycerol, 0.05% BSA Preservative 0.01% Sodium Azide Storage Store at -20℃. Ship Shipped at 4°C. 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 1 © Creative Diagnostics All Rights Reserved GENE INFORMATION Gene Name Hbg1 hemoglobin, gamma A [ Rattus norvegicus ] Official Symbol Hbg1 Synonyms HBG1; hemoglobin, gamma A; epsilon 3 globin; hemoglobin, epsilon 1; hemoglobin Y beta-like embryonic chain; hemoglobin Y, beta-like embryonic chain; Hbe1; Hbb-y; Entrez Gene ID 94164 Protein Refseq NP_742090 UniProt ID O88754 Function heme binding; hemoglobin alpha binding; 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 2 © Creative Diagnostics All Rights Reserved.

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Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing
Journal of Personalized Medicine Article Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing Adekunle Adekile 1,*, Nagihan Akbulut-Jeradi 2, Rasha Al Khaldi 2, Maria Jinky Fernandez 2 and Jalaja Sukumaran 1 1 Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait; jalajasukumaran@hotmail 2 Advanced Technology Company, Hawali 32060, Kuwait; [email protected] (N.A.-J.); [email protected] (R.A.); [email protected] (M.J.F.) * Correspondence: [email protected]; Tel.: +965-253-194-86 Abstract: Hemoglobin genotype and HBB haplotype are established genetic factors that modify the clinical phenotype in sickle cell disease (SCD). Current methods of establishing these two factors are cumbersome and/or prone to errors. The throughput capability of next generation sequencing (NGS) makes it ideal for simultaneous interrogation of the many genes of interest in SCD. This study was designed to confirm the diagnosis in patients with HbSS and Sβ-thalassemia, identify any ß-thal mutations and simultaneously determine the ßS HBB haplotype. Illumina Ampliseq custom DNA panel was used to genotype the DNA samples. Haplotyping was based on the alleles on five haplotype-specific SNPs. The patients studied included 159 HbSS patients and 68 Sβ-thal patients, previously diagnosed using high performance liquid chromatography (HPLC). There was Citation: Adekile, A.; considerable discordance between HPLC and NGS results, giving a false +ve rate of 20.5% with a S Akbulut-Jeradi, N.; Al Khaldi, R.; sensitivity of 79% for the identification of Sβthal.
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Normal, C=Critical
Patient Report |FINAL Client: Example Client ABC123 Patient: Patient, Example 123 Test Drive Salt Lake City, UT 84108 DOB 7/22/1970 UNITED STATES Gender: Female Patient Identifiers: 01234567890ABCD, 012345 Physician: Doctor, Example Visit Number (FIN): 01234567890ABCD Collection Date: 00/00/0000 00:00 Hemoglobin Evaluation Reflexive Cascade ARUP test code 2005792 Hemoglobin A 97.1 % (Ref Interval: 95.0-97.9) Hemoglobin A2 2.6 % (Ref Interval: 2.0-3.5) Hemoglobin F 0.3 % (Ref Interval: 0.0-2.1) REFERENCE INTERVAL: Hemoglobin F Access complete set of age- and/or gender-specific reference intervals for this test in the ARUP Laboratory Test Directory (aruplab.com). Hemoglobin S 0.0 % (Ref Interval: 0.0-0.0) Hemoglobin C 0.0 % (Ref Interval: 0.0-0.0) Hemoglobin E 0.0 % (Ref Interval: 0.0-0.0) Hemoglobin - Other 0.0 % (Ref Interval: 0.0-0.0) Sickle Cell Solubility Not Performed Hemoglobin, Capillary Electrophoresis Performed Hemoglobin Evaluation See Note Beta Globin Full Gene Sequencing Not Applicable H=High, L=Low, *=Abnormal, C=Critical Patient: Patient, Example ARUP Accession: 21-048-400496 Patient Identifiers: 01234567890ABCD, 012345 Visit Number (FIN): 01234567890ABCD Page 1 of 4 | Printed: 3/11/2021 11:41:09 AM 4848 Patient Report |FINAL Beta Globin (HBB) Del/Dup Result Not Applicable Alpha Thalassemia HBA1 and HBA2 Seq Not Applicable Gamma Globin (HBG1 and HBG2) Sequencing Not Applicable Hemoglobin Cascade Interpretation See Note H=High, L=Low, *=Abnormal, C=Critical Patient: Patient, Example ARUP Accession: 21-048-400496 Patient Identifiers: 01234567890ABCD, 012345 Visit Number (FIN): 01234567890ABCD Page 2 of 4 | Printed: 3/11/2021 11:41:09 AM 4848 Patient Report |FINAL RESULT Normal hemoglobin evaluation.
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Identifying Genetic Variants and Pathways Associated with Extreme Levels of Fetal Hemoglobin in Sickle Cell Disease in Tanzania
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