Alpha Thalassemia
Different hematologic phenotypes are associated with the leftward ( alpha 4 2) and rightward ( alpha 3 7) alpha+ thalassemia deletions
... of alpha 0 thalassemia were not found in this survey, nondeletion alpha-thalassemia was present at low ...the alpha 1-gene and the 4.2-kilobase deletion deletes the alpha 2-gene, ...
6
Globin chain synthesis in the alpha thalassemia syndromes
... disease, alpha thalassemia trait, and the “silent carrier” state were incubated with leucine- 14 C for definition of relative rates of production of alpha and beta chains in these ...separated ...
9
Full blood count in sudanese carriers of 3.7 alpha thalassemia
... the alpha thalassemia trait is characterized by slight microcytosis and hypochromasia and also the degree of the hypochromasia disagreed with Higgs et ...the alpha thalassemia to microcytosis ...
5
Two different molecular organizations account for the single alpha globin gene of the alpha thalassemia 2 genotype
... the alpha-thal- 2 genotype were found: the first was the result of a ...5' alpha-globin gene (leftward deletion alpha-thal-2 genotype), and the second probably the result of a crossover deletion of a ...
8
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
... the alpha thalassemia/mental retardation X-linked syndrome (ATR-X) underwent molecular diagnostic con- firmation (ATRX gene analysis) and were selected for the methylation ...
11
Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease
... without alpha-thalassemia, and the slight difference in hemoglobin F levels appear to reflect differences in numbers of circulating F ...coexisting alpha-thalassemia, the change in the ...
7
Molecular basis for nondeletion alpha thalassemia in American blacks Alpha 2(116GAG UAG)
... nondeletion alpha-thalassemia defect in this family which segregates with the intact alpha alpha gene ...unstable alpha-globin gene product was demonstrated by in vitro translation of ...
7
Concurrent sickle cell anemia and alpha thalassemia Effect on pathological properties of sickle erythrocytes
... of alpha-thalassemia is to inhibit the generation of sickle RBC having high density and MCHC, and that the other beneficial effects of sickle RBC are secondary to this ...of alpha-thalassemia, ...
9
Compensatory increase in alpha 1 globin gene expression in individuals heterozygous for the alpha thalassemia 2 deletion
... in alpha-globin gene activity secondarily to the loss of function of one or more of these genes (alpha-thalassemia [Thal]) have not been directly ...human alpha-globin genes by determining the ...
9
Organization of the alpha globin genes in the Chinese alpha thalassemia syndromes
... four alpha-globin genes of normals are at two loci located on a ...5' alpha- globin locus is deleted and the single 3' alpha-globin locus is found on a ...In alpha-thalassemia-2 there ...
5
Hematologic Features of Alpha Thalassemia Carriers
... different α -thal genotypes were considered. All patients showed reduced MCV and/or MCH values. Moreover, MCV and MCH were lower in patients with two functional alpha globin genes in comparison to patients with ...
6
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
... the alpha-and beta-globin ...the alpha/beta ratio (alpha globin mRNA/beta globin mRNA) in two ATRX patients (ATRX-1 and ATRX-2) with values of ...(ATRX-3, alpha/beta ratio ...of ...
11
alpha Thalassemia caused by an unstable alpha globin mutant
... abnormal alpha-globin ...unstable alpha-globin is that the alpha-globin deficiency causes ...Pro alpha/alpha alpha) resemble alpha-thalassemia carriers and do not ...
7
Effects of alpha thalassemia and sickle polymerization tendency on the urine concentrating defect of individuals with sickle cell trait
... normal alpha-globin genotype (alpha alpha/alpha alpha), and those who were either heterozygous (-alpha/alpha alpha) or homozygous (-alpha/-alpha) for ...
7
An Unusual Association between Unilateral Intracranial Vessels Occlusion with Iron Deficiency Anaemia and Alpha-Thalassemia Trait: A Case Report
... We report a 33-year-old Malay woman presented with acute left dense hemiparesis and an NIHSS score of 11/15. Computed tomography (CT) scan brain showed a massive right middle cerebral artery (MCA) territory infarct. The ...
5
Cut-off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia
... Comparison of hematologic parameters of subjects with 2 versus 3 alpha genes deleted.. Data 221.[r] ...
11
Molecular basis of alpha-thalassemia
... Other mutations may alter the structure of the globin chain a ff ecting the stability of the αβ-dimer or tetramer. A few examples of highly unstable Hb variants are Hb Evora, Hb Heraklion, Hb Dartmouth, Hb Quong Sze, Hb ...
11
Hemoglobin Evanston (alpha 14 Trp Arg) An unstable alpha chain variant expressed as alpha thalassemia
... mild thalassemia-like changes, with one of the parents in each family also expressing the variant hemoglobin; in the latter individuals the mutant alpha-chains made up less than 2% of the total, and were ...
11
Differing erythrocyte membrane skeletal protein defects in alpha and beta thalassemia
... of alpha thalassemia (HbH disease), in patients with beta thalassemia intermedia, and in normal ...individuals. Alpha- and beta-thalassemic spectrin functions normally in spectrin ...
8
A retinopathy in young patient with co-inheritance of heterozygous alpha + −thalassemia and sickle trait: a case report
... The retinopathy and the fact that his mother has sickle cell anaemia motivated a screening test to identify variant and abnormal haemoglobins (electrophoresis, liquid high performance chromatography and polymerase chain ...
5