Rapid diagnosis of hemoglobin constant spring and hemoglobin E by amplified created restriction sites [letter]
نویسندگان
چکیده
منابع مشابه
Rapid diagnosis of hemoglobin constant spring and hemoglobin E by amplified created restriction sites.
To the Editor: The diagnoses of these cases were based on cellulose acetate electrophoresis, isoelectric focusing, or direct sequencing of the entire globin genes. For the detection of Hb CS, two pairs of primers were used by alteration of the structure of one of the globin chains of the hefor PCR. The first pair of primers (upstream primer, 5’moglobin (Hb) molecule.’ The diagnosis of these dis...
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We developed a rapid and simple method to diagnose the molecular defects of beta-thalassemia in Chinese patients. This method involves the selective amplification of a DNA fragment from human beta globin gene with specific oligonucleotide primers, followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. To detect the 4-nucleoti...
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Abstract Introduction: Hemoglobin Constant Spring (Hb CS), a abnormal Hb characterized by elongated α-globin chain resulting from mutations of the termination codon in the α2 - globin gene , is the most common nondelitional α-thalassemic mutation and is an important cause of HbH like disease in Southeast Asia. Case Report: A 9- years-old female with immune hemolytic anemia and splenomegally...
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the online Data Supplement). The fetal-specific allele was positively detected in 36 of the 41 SABER analyses in which the fetal genotype was informative (Table 1). When applied as a panel, the assays were able to detect the presence of the paternally inherited, fetal-specific allele in at least one of the informative SNPs in all of the cases (Table 1). There was no false-positive detection. In...
متن کاملHematologic and biosynthetic studies in homozygous hemoglobin Constant Spring.
The elongated alpha-globin chains of hemoglobin Constant Spring (alpha cs chain of HbCS ) are produced in low amounts such that the alpha cs-gene acts as a form of alpha-thalassemia; yet in the homozygous state the pathophysiological effects of this mutant are more severe than in the corresponding conditions that result from alpha-globin gene deletions. In studies designed to examine this discr...
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ژورنال
عنوان ژورنال: Blood
سال: 1993
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v81.2.565.565