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α-thalassemia (199) 199
humans (158) 158
index medicus (138) 138
hematology (130) 130
alpha-thalassemia - genetics (123) 123
biochemistry & molecular biology (119) 119
alpha-thalassemia (105) 105
female (94) 94
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thalassemia (16) 16
beta-globins - genetics (15) 15
gene deletion (15) 15
globins - genetics (15) 15
infant, newborn (15) 15
amino acid substitution (14) 14
hemoglobin a2 - genetics (14) 14
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globin gene-cluster (7) 7
hydrops-fetalis (7) 7
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nondeletional α-thalassemia (7) 7
thalassemia mutations (7) 7
alpha-thalassemia - ethnology (6) 6
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anemia, sickle cell - genetics (6) 6
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Hemoglobin, ISSN 0363-0269, 05/2018, Volume 42, Issue 3, pp. 209 - 212
The technique of combining multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (CGH) and gap-polymerase chain... 
α-globin | novel mutation | α-thalassemia (α-thal) | molecular diagnosis
Journal Article
Hemoglobin, ISSN 0363-0269, 01/2019, Volume 43, Issue 1, pp. 69 - 72
The α + -thal deletion of 3.557 kb (NG_000006.1: g.32745_36301del, -α MAL3.5 ), involving the entire α2-globin gene, was identified in a Chinese family by... 
α-Globin gene cluster | Hb H disease | MAL3.5 | α-thalassemia (α-thal)
Journal Article
Hemoglobin, ISSN 0363-0269, 01/2019, Volume 43, Issue 1, pp. 4 - 6
Interest in α-globin point mutations has increased in the past few years because nondeletional variations can affect protein function and stability, giving... 
genetic counseling | nondeletional α-thalassemia (α-thal) type | unstable α-globin gene | microcytosis | α1-Globin variant
Journal Article
Hemoglobin, ISSN 0363-0269, 11/2018, Volume 42, Issue 5-6, pp. 344 - 346
In this report, we describe a prenatal case with cardiomegaly and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 22 weeks' gestation.... 
α-Thalassemia (α-thal) | fetal anemia | nondeletional Hb H disease
Journal Article
Hemoglobin, ISSN 0363-0269, 07/2018, Volume 42, Issue 4, pp. 243 - 246
Hemoglobinopathies are the most common monogenic diseases in the world, causing many health problems worldwide. In Egypt, thalassemia is the most common cause... 
deletional genotypes | polymerase chain reaction (PCR) analysis | α-Thalassemia (α-thal) | Egypt
Journal Article
Hemoglobin, ISSN 0363-0269, 05/2018, Volume 42, Issue 3, pp. 166 - 170
The Saudi-type polyadenylation (polyA) signal mutation on the α2-globin gene, HBA2: c.*94A > G; AATAAA>AATAAG; α α, is one of the major α-thalassemia (α-thal)... 
Hb H disease | α-Thalassemia (α-thal) | polyadenylation (polyA) signal | Bahrain | T-Saudi
Journal Article
Hemoglobin, ISSN 0363-0269, 11/2017, Volume 41, Issue 4-6, pp. 306 - 307
We report a novel mutation on the α2-globin gene, HBA2: c.184A>T, detected in a Chinese proband. This mutation resulted in a Lys→Term substitution at position... 
nonsense mutation | α-Globin gene | α-thalassemia (α-thal)
Journal Article
Hemoglobin, ISSN 0363-0269, 01/2018, Volume 42, Issue 1, pp. 61 - 64
Hb Bart's hydrops fetalis is the most severe and generally fatal clinical phenotype of α-thalassemia (α-thal), which is due to the deletion of all four... 
α-Globin gene | α-thalassemia (α-thal) | ultrasound | Hb Bart's hydrops fetalis
Journal Article
Hemoglobin, ISSN 0363-0269, 11/2017, Volume 41, Issue 4-6, pp. 243 - 247
α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical... 
α-Thalassemia (α-thal) | prenatal diagnosis | deletion | - | molecular analysis |
Journal Article
Indian Journal of Clinical Biochemistry, ISSN 0970-1915, 01/2019, Volume 34, Issue 1, pp. 115 - 117
α-Thalassemia is one of the most common monogenic diseases worldwide. The combination of alpha-chain variants with thalassemia mutations may lead to clinical... 
α-Globin gene | Mutation | α-Thalassemia (α-thal) | Hb Fontainebleau | Thalassemia | Genetic counseling | Prenatal diagnosis | Nonsense mutation
Journal Article
Hemoglobin, ISSN 0363-0269, 07/2018, Volume 42, Issue 4, pp. 252 - 256
Numerical variation in α-globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from... 
blood transfusion | α-globin gene triplication | β-thalassemia (β-thal) | Iranian population | α-Thalassemia (α-thal)
Journal Article
Hemoglobin, ISSN 0363-0269, 05/2017, Volume 41, Issue 3, pp. 218 - 219
We report an α 0 -thalassemia (α 0 -thal) trait in Newfoundlanders caused by a novel 90.7 kb deletion. The deletion, designated the Newfoundland deletion (- -... 
α-Thalassemia (α-thal) | Gene deletion | HBA2 and HBA1 genes
Journal Article
Hemoglobin, ISSN 0363-0269, 03/2019, Volume 43, Issue 2, pp. 112 - 115
α-Thalassemia (α-thal) is a common hemoglobinopathy mainly caused by deletion of one or both α-globin genes. We describe an autochthonous Belgian family... 
α-Thalassemia (α-thal) trait | novel large deletion | Belgian family | GENE | alpha-Thalassemia (alpha-thal) trait | HEMATOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY
Journal Article
Hemoglobin, ISSN 0363-0269, 03/2019, Volume 43, Issue 2, pp. 107 - 111
α-Thalassemia (α-thal) is one of the most common genetic disorders worldwide. The aim of this study was to investigate for the first time the α-thal mutation... 
mutation | α-Thalassemia (α-thal) | Iran | gene | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROVINCE | HEMATOLOGY | alpha-Thalassemia (alpha-thal) | GLOBIN GENE-MUTATIONS
Journal Article
Hemoglobin, ISSN 0363-0269, 03/2019, Volume 43, Issue 2, pp. 101 - 106
In practice, gap-polymerase chain reaction (gap-PCR) and reversed dot-blot are the two most frequently used molecular diagnostic methods for α-thalassemia... 
polymorphism | α-Thalassemia (α-thal) | polymerase chain reaction (PCR) | genotyping | COMPOUND HETEROZYGOSITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | HYDROPS | ANEMIA | HEMATOLOGY | alpha-Thalassemia (alpha-thal) | DELETION
Journal Article
Hemoglobin, ISSN 0363-0269, 01/2019, Volume 43, Issue 1, pp. 38 - 41
To evaluate the iron metabolism and oxidative status in patients with Hb H disease, we investigated 43 patients with Hb H disease, including eight deletional... 
iron metabolism | α-Thalassemia (α-thal) | oxidative status | SUPEROXIDE | ALPHA-THALASSEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | STRESS | HEMATOLOGY | alpha-Thalassemia (alpha-thal)
Journal Article
Hemoglobin, ISSN 0363-0269, 11/2015, Volume 39, Issue 6, pp. 412 - 414
α-Thalassemia (α-thal) is a common inherited disease in southern China. The severest form is Hb Bart's (γ 4 ) disease, in which the affected fetuses almost... 
prenatal diagnosis (PND) | THAI | α-Thalassemia (α-thal) | deletion | - | Hb Bart's (γ4) disease | Thai deletion
Journal Article
Hemoglobin, ISSN 0363-0269, 07/2018, Volume 42, Issue 4, pp. 247 - 251
Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice... 
IVS-I-1 (G>A) (HBB: c.95+1G>A) | transfusion-dependent α-thalassemia (α-thal) | Hb Adana (HBA2: c.179G>A)
Journal Article
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