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Tytuł:
Hb Wanjiang: A New β-Globin Chain Variant with Two Amino Acid Substitutions ( HBB : c.255_264delinsTTTTTCTCAG).
Autorzy:
Wu SM; Prenatal Diagnosis Center, Affiliated Dongguan Hospital, Southern Medical University (Dongguan People's Hospital), Dongguan, People's Republic of China.
Jiang F; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, People's Republic of China.
Li C; Prenatal Diagnosis Center, Affiliated Dongguan Hospital, Southern Medical University (Dongguan People's Hospital), Dongguan, People's Republic of China.
Guo ZT; Clinical Laboratory, Affiliated Dongguan Hospital, Southern Medical University (Dongguan People's Hospital), Dongguan, People's Republic of China.
Huang SR; Department of Obstetrics and Gynecology, Affiliated Dongguan Hospital, Southern Medical University (Dongguan People's Hospital), Dongguan, People's Republic of China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, People's Republic of China.
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Źródło:
Hemoglobin [Hemoglobin] 2022 Mar; Vol. 46 (2), pp. 129-131. Date of Electronic Publication: 2022 Aug 11.
Typ publikacji:
Journal Article
MeSH Terms:
Hemoglobins, Abnormal*/genetics
delta-Globins*/genetics
Amino Acid Substitution ; Amino Acids ; Codon ; Humans ; Male ; Nucleotides ; beta-Globins/chemistry ; beta-Globins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A New Mutation, Hb A 2 -Canakkale [δ10(A7)Ala→Val; HBD : c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A 2 Levels.
Autorzy:
Karakaya T; Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.; Department of Medical Genetics, Isparta City Hospital, Isparta, Turkey.
Silan F; Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
Ozdemir O; Department of Medical Genetics, Faculty of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
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Źródło:
Hemoglobin [Hemoglobin] 2022 Mar; Vol. 46 (2), pp. 87-90. Date of Electronic Publication: 2022 Aug 05.
Typ publikacji:
Journal Article
MeSH Terms:
beta-Thalassemia*/diagnosis
beta-Thalassemia*/genetics
delta-Globins*/genetics
Cohort Studies ; Hemoglobin A2/analysis ; Hemoglobin A2/genetics ; Humans ; Mutation ; Turkey
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An Evaluation for the Causes of Reduced Hb A 2 and the Molecular Characterization of HBD Variants in Hong Kong.
Autorzy:
Chan NCN; Department of Pathology, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.
Wong THY; Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Shatin, New Territories, Hong Kong.
Cheng KCK; Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Shatin, New Territories, Hong Kong.
Chan NPH; Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Shatin, New Territories, Hong Kong.
Ng MHL; Hematology, Genetics and Genomics Laboratory, Prince of Wales Hospital, Shatin, New Territories, affiliated to The Chinese University of Hong Kong, Hong Kong.
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Źródło:
Hemoglobin [Hemoglobin] 2021 Nov; Vol. 45 (6), pp. 387-391. Date of Electronic Publication: 2022 Feb 16.
Typ publikacji:
Journal Article
MeSH Terms:
alpha-Thalassemia*/diagnosis
alpha-Thalassemia*/epidemiology
alpha-Thalassemia*/genetics
beta-Thalassemia*/diagnosis
beta-Thalassemia*/epidemiology
beta-Thalassemia*/genetics
delta-Globins*/genetics
Hemoglobin A2/genetics ; Heterozygote ; Hong Kong/epidemiology ; Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
δ-Globin Chain Variants Associated with Decreased Hb A 2 Levels: A National Reference Laboratory Experience.
Autorzy:
Rets AV; Hematopathology Division, Associated Regional University Pathologists (ARUP) Laboratories, Salt Lake City, UT, USA.; Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, UT, USA.
Reading NS; Hematopathology Division, Associated Regional University Pathologists (ARUP) Laboratories, Salt Lake City, UT, USA.; Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, UT, USA.; Department of Internal Medicine, Division of Hematology, University of Utah Health, Salt Lake City, UT, USA.
Agarwal AM; Hematopathology Division, Associated Regional University Pathologists (ARUP) Laboratories, Salt Lake City, UT, USA.; Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, UT, USA.
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Źródło:
Hemoglobin [Hemoglobin] 2020 Nov; Vol. 44 (6), pp. 438-441. Date of Electronic Publication: 2020 Oct 15.
Typ publikacji:
Journal Article
MeSH Terms:
Hemoglobin A2/*metabolism
beta-Thalassemia/*blood
beta-Thalassemia/*genetics
delta-Globins/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Child ; Child, Preschool ; Erythrocyte Indices ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Hemoglobin A2/genetics ; Hemoglobinopathies/blood ; Hemoglobinopathies/diagnosis ; Hemoglobinopathies/epidemiology ; Hemoglobinopathies/genetics ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; United States/epidemiology ; Young Adult ; alpha-Globins ; beta-Thalassemia/diagnosis ; beta-Thalassemia/epidemiology ; delta-Globins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hb A 2 -Pistoia [δ89(F5)Ser→Asn, HBD : c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child.
Autorzy:
Guastini A; Laboratorio Analisi, Ospedale San Jacopo, Pistoia, Italia.
Rizzi L; Laboratorio Analisi, Ospedale San Jacopo, Pistoia, Italia.
Santoni F; Laboratorio Analisi, Ospedale San Jacopo, Pistoia, Italia.
Mogni M; Laboratorio Genetica Umana, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini, Genova, Italia.
Maffei M; Laboratorio Genetica Umana, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini, Genova, Italia.
Vinci S; Sebia-Italia Società a Responsabilità Limita (S.r.l.), Firenze, Italia.
Barberio G; Medicina di Laboratorio, Ospedale di Treviso, Azienda Unità Locale Socio-Sanitaria (ULSS No. 9), Treviso, Italia.
Coviello D; Laboratorio Genetica Umana, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini, Genova, Italia.
Ivaldi G; Laboratorio Genetica Umana, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Giannina Gaslini, Genova, Italia.
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Źródło:
Hemoglobin [Hemoglobin] 2020 Sep; Vol. 44 (5), pp. 368-370. Date of Electronic Publication: 2020 Sep 10.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Alleles*
Mutation*
Hemoglobin A2/*genetics
delta-Globins/*genetics
Child ; Electrophoresis, Capillary ; Family ; Genotype ; Hematologic Diseases/blood ; Hematologic Diseases/diagnosis ; Hematologic Diseases/genetics ; Hemoglobins, Abnormal/genetics ; Humans ; Italy ; Male ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Quadrupole-Time-of-Flight Mass Spectrometric Identification of Hemoglobin Subunits α, β, γ and δ in Unknown Peaks of High Performance Liquid Chromatography of Hemoglobin in β-Thalassemias.
Autorzy:
Abdullah UYH; Faculty of Medicine, Universiti Sultan Zainal Abidin , Medical Campus , Kuala Terengganu , Malaysia.
Ibrahim HM; Paediatric department, Hospital Kuala Lumpur (HKL) , Jalan Pahang , Kuala Lumpur , Malaysia.
Mahmud NB; Pathology Department, Haematology Unit, Hospital Kuala Lumpur (HKL) , Jalan Pahang , Kuala Lumpur , Malaysia.
Salleh MZ; Integrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi Mara (UiTM) , Bandar Puncak Alam , Selangor State , Malaysia.
Kek TL; Integrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi Mara (UiTM) , Bandar Puncak Alam , Selangor State , Malaysia.
Noorizhab MNFB; Integrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi Mara (UiTM) , Bandar Puncak Alam , Selangor State , Malaysia.
Jassim HM; Emergency Department, Rockingham Peel Group, South Metropolitan Health Service , Rockingham , West Australia.
Othman I; Jeffery Cheah School of Medicine and Health Sciences, Monash University , Subang Jaya , Selangor State , Malaysia.
Zainal Abidin SA; LCMS Platform, Jefferey Cheah School of Medicine and Health Sciences, Monash University Malaysia , Subang Jaya , Selangor State , Malaysia.
Zilfalil BA; School of Medical Science, Health Campus, Universiti Sains Malaysia (USM) , Kubang Kerian , Kelantan , Malaysia.
Wilairat P; National Doping Control Centre, Mahidol University , Rachathawee , Bangkok , Thailand.
Fucharoen S; Institute of Molecular Biosciences, Mahidol University , Salaya Campus , Nakornpathom , Thailand.
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Źródło:
Hemoglobin [Hemoglobin] 2019 May; Vol. 43 (3), pp. 182-187. Date of Electronic Publication: 2019 Jul 12.
Typ publikacji:
Journal Article
MeSH Terms:
Chromatography, High Pressure Liquid*
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization*
Hemoglobin Subunits/*analysis
beta-Thalassemia/*blood
beta-Thalassemia/*diagnosis
Adolescent ; Adult ; Amino Acid Sequence ; Child ; Child, Preschool ; Female ; Hemoglobin Subunits/chemistry ; Hemoglobins, Abnormal/analysis ; Hemoglobins, Abnormal/chemistry ; Humans ; Male ; Young Adult ; alpha-Globins/analysis ; alpha-Globins/chemistry ; beta-Globins/analysis ; beta-Globins/chemistry ; delta-Globins/analysis ; delta-Globins/chemistry ; gamma-Globins/analysis ; gamma-Globins/chemistry
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations.
Autorzy:
Alkindi S; College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.
AlZadjali S
Daar S
Ambusaidi R
Gravell D
Al Haddabi H
Krishnamoorthy R
Pathare A
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Źródło:
International journal of laboratory hematology [Int J Lab Hematol] 2015 Apr; Vol. 37 (2), pp. 238-43. Date of Electronic Publication: 2014 Jul 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
delta-Globins/*genetics
Adolescent ; Adult ; Alleles ; Anemia, Iron-Deficiency/complications ; Anemia, Iron-Deficiency/diagnosis ; Anemia, Iron-Deficiency/metabolism ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diagnosis, Differential ; Female ; Genotype ; Hemoglobin A2/genetics ; Hemoglobin A2/metabolism ; Humans ; Infant ; Male ; Middle Aged ; Oman ; Severity of Illness Index ; Young Adult ; beta-Thalassemia/complications ; beta-Thalassemia/diagnosis ; beta-Thalassemia/genetics ; beta-Thalassemia/metabolism ; delta-Globins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sudanese (δβ)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.
Autorzy:
Waye JS; a Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton , Ontario , Canada.
Eng B
Got T
Hanna M
Hohenadel BA
Nakamura LM
Walker L
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Źródło:
Hemoglobin [Hemoglobin] 2015; Vol. 39 (5), pp. 368-70. Date of Electronic Publication: 2015 Jul 08.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
beta-Globins/*genetics
beta-Thalassemia/*diagnosis
beta-Thalassemia/*genetics
delta-Globins/*genetics
delta-Thalassemia/*diagnosis
delta-Thalassemia/*genetics
Adult ; Base Sequence ; DNA Mutational Analysis ; Genotype ; Humans ; Introns ; Male ; Phenotype ; Sequence Deletion ; Sudan ; beta-Globins/chemistry ; delta-Globins/chemistry
SCR Disease Name:
Delta-Beta Thalassemia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Woman with Missing Hb A 2 Due to a Novel (εγ)δβ -Thalassemia and a Novel δ-Globin Variant Hb A 2 -Gebenstorf ( HBD : c.209G>A).
Autorzy:
Saller E; Analytica Medizinische Laboratorien AG, Zürich, Switzerland.
Knijnenburg J; Hemoglobinopathies Laboratory, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Harteveld CL; Hemoglobinopathies Laboratory, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Dutly F; Analytica Medizinische Laboratorien AG, Zürich, Switzerland.
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Źródło:
Hemoglobin [Hemoglobin] 2020 May; Vol. 44 (3), pp. 214-217. Date of Electronic Publication: 2020 Jul 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
Hemoglobin A2/*genetics
beta-Thalassemia/*diagnosis
beta-Thalassemia/*genetics
delta-Globins/*genetics
Alleles ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; Erythrocyte Indices ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genetic Testing ; Heterozygote ; Humans ; Phenotype ; beta-Thalassemia/blood
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.
Autorzy:
Zhang J; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China. .; Department of Hematology, The First People's Hospital of Yunnan Province, Yunnan Province, China. .; Department of Pediatrics, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China. .
Li P; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China.; Department of Pediatrics, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.
Yang Y; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China.; Department of Pediatrics, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.
Yan Y; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China.
Zeng X; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China.
Li D; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China.
Chen H; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China.
Su J; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China.
Zhu B; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Yunnan Province, China. .; Department of Hematology, The First People's Hospital of Yunnan Province, Yunnan Province, China. .; Department of Pediatrics, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China. .
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Źródło:
Scientific reports [Sci Rep] 2019 Jun 04; Vol. 9 (1), pp. 8264. Date of Electronic Publication: 2019 Jun 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Molecular Epidemiology*
Hemoglobinopathies/*epidemiology
Hemoglobinopathies/*genetics
Hemoglobins, Abnormal/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; China/epidemiology ; Computational Biology ; Female ; Genotype ; Hemoglobinopathies/blood ; Hemoglobins, Abnormal/ultrastructure ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Young Adult ; alpha-Globins/genetics ; alpha-Thalassemia/blood ; alpha-Thalassemia/epidemiology ; alpha-Thalassemia/genetics ; beta-Globins/genetics ; beta-Thalassemia/blood ; beta-Thalassemia/genetics ; beta-Thalassemia/pathology ; delta-Globins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
Autorzy:
Zhang J; Department of Obstetrics and Gynecology, The First People's Hospital of Yunnan Province, Kunming, China.; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.; Department of Hematology, The First People's Hospital of Yunnan Province, Kunming, China.
Yang Y; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Li P; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Yan Y; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Lv T; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Zhao T; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Zeng X; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Li D; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Zhou X; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Chen H; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Su J; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Yang T; Department of Hematology, The First People's Hospital of Yunnan Province, Kunming, China.
He J; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.
Zhu B; Department of Obstetrics and Gynecology, The First People's Hospital of Yunnan Province, Kunming, China.; Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jun; Vol. 7 (6), pp. e706. Date of Electronic Publication: 2019 May 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fetal Hemoglobin/*genetics
delta-Globins/*genetics
delta-Thalassemia/*genetics
Adult ; Child, Preschool ; China ; Female ; Gene Deletion ; Humans ; Infant ; Male ; delta-Thalassemia/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hb A2-Konz [δ50(D1)Ser → Thr; HBD: c.151T > A]: a new δ chain hemoglobin variant characterized by mass spectrometry and high performance liquid chromatography.
Autorzy:
Alayi TD; Laboratoire de Spectrométrie de Masse Bio-Organique, Université de Strasbourg, IPHC, CNRS , Strasbourg , France.
Van Dorsselaer A
Epting T
Bissé E
Schaeffer-Reiss C
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Źródło:
Hemoglobin [Hemoglobin] 2014; Vol. 38 (2), pp. 133-6. Date of Electronic Publication: 2014 Jan 29.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
Hemoglobin A2/*genetics
Hemoglobins, Abnormal/*genetics
delta-Globins/*genetics
Aged ; Chromatography, High Pressure Liquid ; Female ; Hemoglobin A2/metabolism ; Hemoglobins, Abnormal/metabolism ; Humans ; Serine/genetics ; Spectrometry, Mass, Electrospray Ionization ; Tandem Mass Spectrometry ; Threonine/genetics ; delta-Globins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Detection of a novel βδ-globin fusion gene, anti-lepore Hb CHORI (β(through IVS-I-57)/δ(from IVS-I-101)), by multiplex ligation-dependent probe amplification.
Autorzy:
Cui J; Hemoglobinopathy Reference Laboratory, Children's Hospital & Research Center Oakland, Oakland , California , USA.
Azimi M
Hoppe CC
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Źródło:
Hemoglobin [Hemoglobin] 2014; Vol. 38 (1), pp. 60-3. Date of Electronic Publication: 2013 Oct 08.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Fusion*
Multiplex Polymerase Chain Reaction*
Hemoglobins, Abnormal/*genetics
beta-Globins/*genetics
delta-Globins/*genetics
Amino Acid Sequence ; Base Sequence ; Hemoglobinopathies/diagnosis ; Hemoglobinopathies/genetics ; Hemoglobins, Abnormal/chemistry ; Humans ; Isoelectric Focusing ; Molecular Sequence Data ; Sequence Alignment ; beta-Globins/chemistry ; delta-Globins/chemistry
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Phenotypic expression of Hb F in common high Hb F determinants in Thailand: roles of α-thalassemia, 5' δ-globin BCL11A binding region and 3' β-globin enhancer.
Autorzy:
Prakobkaew N; The Graduate School, Khon Kaen University, Khon Kaen, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Fucharoen S
Fuchareon G
Siriratmanawong N
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Źródło:
European journal of haematology [Eur J Haematol] 2014 Jan; Vol. 92 (1), pp. 73-9. Date of Electronic Publication: 2013 Oct 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Fetal Hemoglobin/*genetics
alpha-Thalassemia/*blood
alpha-Thalassemia/*genetics
beta-Globins/*genetics
delta-Globins/*genetics
Adult ; Binding Sites ; Carrier Proteins/metabolism ; Erythrocyte Indices ; Fetal Hemoglobin/chemistry ; Gene Order ; Genotype ; Humans ; Nuclear Proteins/metabolism ; Protein Binding ; Repressor Proteins ; Thailand ; alpha-Globins/genetics ; alpha-Thalassemia/diagnosis ; beta-Globins/metabolism ; beta-Thalassemia/genetics ; delta-Globins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)].
Autorzy:
Joly P; Unité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, France.
Lacan P
Garcia C
Desbrée A
Couprie N
Francina A
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Źródło:
Hemoglobin [Hemoglobin] 2013; Vol. 37 (1), pp. 80-4. Date of Electronic Publication: 2012 Dec 11.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
Hemoglobin A2/*genetics
delta-Globins/*genetics
Amino Acid Sequence ; Base Sequence ; DNA/genetics ; Female ; Hemoglobin A2/chemistry ; Humans ; Infant ; Male ; Middle Aged ; Molecular Sequence Data ; Sequence Analysis, DNA ; beta-Thalassemia/genetics ; delta-Globins/chemistry
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Detection of anti-Lepore Hb P-Nilotic by multiplex ligation-dependent probe amplification.
Autorzy:
Cui J; Hemoglobinopathy Reference Laboratory, Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA.
Azimi M
Adekile AD
Al Awadhi H
Hoppe CC
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Źródło:
Hemoglobin [Hemoglobin] 2012; Vol. 36 (3), pp. 276-82. Date of Electronic Publication: 2012 Mar 02.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hemoglobins, Abnormal/*genetics
Nucleic Acid Amplification Techniques/*methods
beta-Globins/*genetics
delta-Globins/*genetics
Adult ; Base Sequence ; DNA Mutational Analysis ; DNA Probes ; Female ; Gene Fusion ; Hemoglobins, Abnormal/metabolism ; Humans ; Molecular Sequence Data ; Sequence Homology, Nucleic Acid ; beta-Globins/metabolism ; delta-Globins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization of the 5' and 3' breakpoints of the Spanish (δβ)0-thalassemia deletion in Mexican patients.
Autorzy:
Guzmán LF; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México 44340.
Perea FJ
Morales-González KR
Sánchez-López JY
de la Cruz EI
Chávez-Velasco ML
Ibarra CB
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Źródło:
Hemoglobin [Hemoglobin] 2011; Vol. 35 (1), pp. 80-3.
Typ publikacji:
Journal Article
MeSH Terms:
Sequence Deletion*
Mexican Americans/*genetics
Thalassemia/*genetics
beta-Globins/*genetics
delta-Globins/*genetics
Alleles ; Base Sequence ; Chromosome Breakpoints ; Haplotypes ; Heterozygote ; Humans ; Mexico/epidemiology ; Molecular Sequence Data ; Mutation ; Polymerase Chain Reaction ; Pseudogenes ; Receptors, Odorant/deficiency ; Receptors, Odorant/genetics ; Sequence Analysis, DNA ; Spain/ethnology ; Thalassemia/ethnology ; beta-Globins/deficiency ; delta-Globins/deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Rare β- and δ-Globin Gene Mutations in the Pathare Prabhus: Original Inhabitants of Mumbai, India.
Autorzy:
Gorakshakar AC; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Breganza PV; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Colaco SP; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Shaikh RF; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Bohra MY; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Sawant PM; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Nadkarni AH; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Colah RB; a Department of Transfusion Medicine , National Institute of Immunohaematology, King Edward Memorial Hospital Campus , Parel , Mumbai , Maharashtra State , India.
Ghosh KK; b Surat Raktadan Kendra, Udhna Khatodara Urban Health Centre , Near Chosath Joganio Mata Mandir , Surat , Gujarat State , India.
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Źródło:
Hemoglobin [Hemoglobin] 2018 Sep - Nov; Vol. 42 (5-6), pp. 297-301. Date of Electronic Publication: 2019 Jan 09.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Hemoglobinopathies/*ethnology
beta-Globins/*genetics
delta-Globins/*genetics
Genetic Testing/methods ; Hemoglobinopathies/diagnosis ; Humans ; India ; Molecular Epidemiology ; Population Groups
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals.
Autorzy:
Sun M; a Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital , Dongguan , Guangdong Province , People's Republic of China.
Lou J; a Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital , Dongguan , Guangdong Province , People's Republic of China.
Zhao Y; a Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital , Dongguan , Guangdong Province , People's Republic of China.
Liu Y; a Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital , Dongguan , Guangdong Province , People's Republic of China.
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Źródło:
Hemoglobin [Hemoglobin] 2018 Mar; Vol. 42 (2), pp. 132-134. Date of Electronic Publication: 2018 May 03.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
delta-Globins/*genetics
Asian People ; Codon, Nonsense ; Family ; Hemoglobin A2/genetics ; Hemoglobins, Abnormal ; Humans ; Mutation, Missense ; delta-Thalassemia/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
δ-Thalassemia with Complete Absence of Hb A 2 in a Chinese Family.
Autorzy:
Tang HS; a Prenatal Diagnosis Unit , Boai Hospital of Zhongshan , Zhongshan , Guangdong Province , People's Republic of China.
Wang DG; a Prenatal Diagnosis Unit , Boai Hospital of Zhongshan , Zhongshan , Guangdong Province , People's Republic of China.
Huang LY; b Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
Li DZ; b Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.
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Źródło:
Hemoglobin [Hemoglobin] 2018 Mar; Vol. 42 (2), pp. 135-137. Date of Electronic Publication: 2018 May 08.
Typ publikacji:
Journal Article
MeSH Terms:
Hemoglobin A2/*deficiency
beta-Thalassemia/*diagnosis
delta-Thalassemia/*diagnosis
Asian People ; Family ; Female ; Humans ; Male ; delta-Globins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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