Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring.
نویسندگان
چکیده
منابع مشابه
Hematologic 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...
متن کاملUnusual presentation of a patient with hemoglobin Constant Spring and immune hemolytic anemia
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...
متن کاملThe unusual pathobiology of hemoglobin constant spring red blood cells.
Hemoglobin Constant Spring (HbCS) is the most common nondeletional alpha-thalassemic mutation and is an important cause of HbH-like disease in Southeast Asia. HbCS variants have an almost normal mean cell volume (MCV) and the anemia is more severe when compared with other alpha-thalassemic variants. We explored the pathobiology of HbCS red blood cells (RBCs) because the underlying cause(s) of t...
متن کاملRapid 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...
متن کاملHemoglobin constant spring can interfere with glycated hemoglobin measurements by boronate affinity chromatography.
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1984
ISSN: 0021-9738
DOI: 10.1172/jci111374