نتایج جستجو برای: hb eβ0 thalassemia
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BACKGROUND Hemoglobinopathies are the most common inherited diseases in southern China. However, there have been only a few epidemiological studies of hemoglobinopathies in Guangdong province. MATERIALS AND METHODS Peripheral blood samples were collected from 15299 "healthy" unrelated subjects of dominantly ethnic Hakka in the Meizhou region, on which hemoglobin electrophoresis and routine bl...
Clinical Phenotypes and Molecular Diagnosis in a Hitherto Interaction of Hb E/β Thalassemia Syndrome
Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either α or β thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles ha...
Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a substitution of Phe for Leu at position 91 of α1-globin chain, originally described in individual of unknown ethnic background. This article addresses the interaction of Hb Grey Lynn with a non-deletional α(+)-thalassemia found in Thailand, a hitherto un-described condition. The proband was adult Thai woman referred for investigation of mild...
Each year, an estimated 300,000 infants are born with either of the two most common hemoglobinopathies: the sickle cell diseases or the thalassemias. These inherited diseases are the most prevalent monogenetic disorders worldwide. Sickle cell disease makes up 85% of the total infants, and thalassemias the remaining 15%. It is increasingly apparent that sickle cell disease and thalassemia have b...
Structural hemoglobin (Hb) variants typically are based on a point mutation in a globin gene that produce a single amino acid substitution in a globin chain. Although most are of limited clinical significance, a few important subtypes have been identified with some frequency. Homozygous Hb C and Hb S (sickle cell disease) produce significant clinical manifestations, whereas Hb E and Hb D homozy...
Hb D is a clinically silent condition, but co-inheritance of Hb D with sickle cell or thalassemia produces clinically significant conditions like sickle cell anemia or thalassemia intermedia and chronic hemolytic anemia of moderate severity. Here we present a case of homozygous Hb D with alpha 3.7kb deletion and phenotypic effect on patients. Diagnosis of Hb D patient was performed by high perf...
Sickle cell disease (SCD) results from a single amino acid substitution in the gene encoding the -globin subunit ( 6Glu > Val) that produces the abnormal hemoglobin (Hb) named Hb S. SCD has different genotypes with substantial variations in presentation and clinical course (Table 1).1,2 The combination of the sickle cell mutation and beta-thalassemia ( -Thal) mutation gives rise to a compound h...
Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes of α-thalassemia are yet to b...
Hb E/b thalassemia is the most common b thalassemia syndrome in Asia-Pacific due to a high prevalent of Hb E and b thalassemia genes. Management of this condition can be cumbersome due to its clinical heterogeneity and various disease severity ranging from severe end in which patients are transfusion dependent thalassemia (TD) similar to that of b thalassemia major (TM) to moderate and mild sev...
Objectives: Hemoglobin E disease, c.26G>A variant of beta-globin gene, is the most common hemoglobinopathy in Asia. Compound heterozygotes inheriting Hb disease and beta-thalassemia generate beta-thalassemia-Hb with severe anemia. This study aimed to develop a pre-implantation genetic testing for monogenic disorders (PGT-M) protocol beta–thalassemia (c.17A>T mutation)-Hb (c.26G>A mutat...
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