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Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 2018, Volume 40, Issue 2, pp. e77 - e82
An analysis of genotype-phenotype correlation was performed for 14 patients with beta-thalassemia who had been registered in Referral Centre for hematology and... 
Mahidol thalassemia severity score | β-thalassemia | genotype-phenotype correlation | SYSTEM | POPULATION | GLOBIN GENE | ONCOLOGY | PEDIATRICS | SPECTRUM | HEMATOLOGY | beta-thalassemia | SEVERITY | CHILDREN | Genetic Association Studies | Humans | Middle Aged | beta-Thalassemia - genetics | Child, Preschool | Infant | Male | beta-Globins - genetics | Young Adult | Adolescent | Adult | Female | Mutation | Child | Croatia
Journal Article
Journal Article
Hematology, ISSN 1024-5332, 10/2018, Volume 23, Issue 9, pp. 697 - 704
Objectives: β-Thalassemia disease is caused by mutations in the β-globin gene. This is considered as one of the common genetic disorders in Syria. The aim of... 
β-Globin mutation | geographical distribution | Syria | MOLECULAR CHARACTERIZATION | POPULATION | HEMOGLOBIN DISORDERS | beta-Globin mutation | THALASSEMIA MUTATIONS | BETA(+)-THALASSEMIA | TERMINATION CODON | ORIGIN | SEQUENCE | SPECTRUM | HEMATOLOGY | PRENATAL-DIAGNOSIS
Journal Article
Journal Article
Hemoglobin, ISSN 0363-0269, 03/2018, Volume 42, Issue 2, pp. 132 - 134
We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene... 
δ-Globin gene | hemoglobin (Hb) variant | Asian Continental Ancestry Group | Hemoglobin A2 - genetics | Humans | Family | Hemoglobins, Abnormal | Codon, Nonsense | Mutation | Mutation, Missense | delta-Thalassemia - genetics | delta-Globins - genetics
Journal Article
TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, ISSN 0250-4685, 04/2019, Volume 44, Issue 2, pp. 126 - 129
Objectives: This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaras region were planned.... 
Beta globin gene mutation | HEMOGLOBINOPATHIES | Beta thalassemia | Syrian immigrants | BIOCHEMISTRY & MOLECULAR BIOLOGY | Children | PRENATAL-DIAGNOSIS
Journal Article
Hematology, ISSN 1024-5332, 06/2014, Volume 19, Issue 4, pp. 192 - 195
Journal Article
by Sun, MN and Lou, JW and Zhao, Y and Liu, YH
HEMOGLOBIN, ISSN 0363-0269, 2018, Volume 42, Issue 2, pp. 132 - 134
We identified two novel -globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the -globin gene... 
DELTA-THALASSEMIA | POPULATION | DIAGNOSIS | hemoglobin (Hb) variant | HEMOGLOBINOPATHIES | ALLELES | delta-Globin gene | BIOCHEMISTRY & MOLECULAR BIOLOGY | HEMATOLOGY | VARIANT
Journal Article
HEMOGLOBIN, ISSN 0363-0269, 2018, Volume 42, Issue 4, pp. 252 - 256
Numerical variation in -globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from... 
blood transfusion | globin gene triplication | ALPHA-THALASSEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | thalassemia (-thal) | LOCI | Iranian population | BETA-THALASSEMIA | HEMATOLOGY | alpha-Thalassemia (-thal)
Journal Article
Journal Article
Hemoglobin, ISSN 0363-0269, 03/2017, Volume 41, Issue 2, pp. 100 - 103
The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals... 
β-Thalassemia (β-thal) | Pakistan | rare mutations | BIOCHEMISTRY & MOLECULAR BIOLOGY | beta-Thalassemia (-thal) | EXPERIENCE | THALASSEMIA MUTATIONS | HEMATOLOGY | SHOWA-YAKUSHIJI | PRENATAL-DIAGNOSIS | REVEALS | 5' Untranslated Regions | Humans | Female | Male | Mutation | 3' Untranslated Regions | Thalassemia - genetics | beta-Globins - genetics
Journal Article
03/2013
Background: β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the... 
Molecular diagnostics | β-globin gene mutations | β-thalassaemia | MARMS
Web Resource
Hemoglobin, ISSN 0363-0269, 6/2014, Volume 38, Issue 3, pp. 161 - 164
Abstract α-Thalassemia (α-thal) encompasses a spectrum of mutations including deletion and point mutations on the α-globin chains that is characterized by a... 
Isfahan Province | mutations | α-Thalassemia (α-thal) | Iran | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPECTRUM | THALASSEMIA MUTATIONS | HEMATOLOGY | alpha-Thalassemia (alpha-thal) | NORTH IRAN | Sequence Deletion | alpha-Globins - genetics | Base Sequence | Humans | Adolescent | Adult | Female | Male | alpha-Thalassemia - epidemiology | alpha-Thalassemia - genetics | Iran - epidemiology
Journal Article