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thalassemia/ödem
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Seite 1 von 225 Ergebnisse
Alpha-thalassemia major presenting in a term neonate without hydrops.
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We describe the clinical and pathologic features of an unusual case of alpha-thalassemia major in a patient who survived to term and lived for 9 days. The neonate was nonhydropic and the clinical picture was dominated by severe hypoxia with pulmonary hypertension. The diagnosis was not suspected
Analysis of real-time PCR cycle threshold of alpha-thalassemia-1 Southeast Asian type deletion using fetal cell-free DNA in maternal plasma for noninvasive prenatal diagnosis of Bart's hydrops fetalis.
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BACKGROUND
Noninvasive prenatal diagnosis based on detection of fetal cell-free DNA is hampered when mother and father are both carriers for the same autosomal recessive mutation.
OBJECTIVE
To compare the diagnosis of Bart's hydrops fetalis using conventional Gap-PCR analysis of fetal cells/tissues
Hydrops fetalis caused by severe alpha-thalassemia.
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Alpha-thalassemia is a prevalent condition in South East Asia and spreading because of increasing immigration. Hemodynamic study of Hb Bart's hydrops fetalis, the most severe form of alpha-thalassemia, showed the fetuses were in a hyperdynamic circulatory state and were also more acidotic, hypoxic,
A Case of Nonimmune Hydrops Fetalis Caused by Homozygous α-Thalassemia.
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Hydrops fetalis is a serious condition which indicates poor prognosis for the affected fetus. Although the incidence of isoimmune hydrops fetalis has decreased markedly, nonimmune hydrops fetalis cases have been more frequently reported. Nonimmune-mediated hydrops can be caused by
Hydrops fetalis caused by homozygous alpha-thalassemia and Rh antigen alloimmunization: report of a survivor and literature review.
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Hematologic causes of hydrops fetalis include homozygous alpha-thalassemia and immune hemolytic anemias. We report the case of a boy with hydrops fetalis who had homozygous alpha-thalassemia and alloimmune hemolytic anemia due to anti-E and anti-C blood group antibodies. He received intrauterine red
Hydrops fetalis caused by homozygous alpha-thalassemia and Kidd antigen alloimmunization in a Chinese woman.
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We report a case with hydrops fetalis resulting from homozygous alpha-thalassemia and alloimmune hemolytic anemia due to anti-JK3. This is one of the few cases with immune- and nonimmune-induced hydrops fetalis.
Prenatal diagnosis of Hb Bart's hydrops fetalis caused by a genetic compound heterozygosity for two different alpha-thalassemia determinants.
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OBJECTIVE
To describe prenatal diagnosis of hemoglobin (Hb) Bart's hydrops fetalis caused by a previously undescribed condition in Thailand of the interaction of alpha(o)-thalassemia with the Southeast Asian (-(SEA)) and the THAI (-(THAI)) deletions in a Thai family.
METHODS
Molecular and
Strong Linkage of the Single Nucleotide Polymorphism rs77308790 with an α0-Thalassemia (- -SEA deletion) Allele and Application for Double-Check Diagnosis of Hb Bart's Hydrops Fetalis Syndrome in Thailand.
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The α0-thalassemia (α0-thal) [- -SEA (Southeast Asian) deletion] is highly prevalent in Southeast Asia and South China. The linkage between the single nucleotide polymorphism (SNP) rs77308790 and the - -SEA deletion was reported in the Chinese population.
Analysis of real-time SYBR-polymerase chain reaction cycle threshold for diagnosis of the alpha-thalassemia-1 Southeast Asian type deletion: application to carrier screening and prenatal diagnosis of Hb Bart's hydrops fetalis.
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Without gel electrophoresis and specific probes, the two tubes real-time SYBR-polymerase chain reaction (SYBR-PCR) was setup by using different primer sets: P1/P2 for the detection of wild type alpha-globin gene alleles and P1/P3 for detection of the allele bearing the Southeast Asian (SEA) type
Hydrops fetalis due to homozygosity for alpha-thalassemia-1, -(alpha)-20.5 kb: the first observation in a Turkish family.
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We report data on a fetus with hydrops fetalis due to a homozygosity for alpha-thalassemia-1, type -(alpha)-20.5 kb; this is the first reported case in a Turkish family. Characterization of the abnormality was based on data from family studies and from alpha-globin gene mapping of the DNA from the
Early onset of fetal hydrops associated with the α-thalassemia - -(THAI) deletion.
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α-Thalassemia (α-thal) is common in southern China. Homozygosity for the - -(SEA) (Southeast Asian) α-globin gene deletion is the most common cause of the Hb Bart's (γ4) disease. Occasionally, other α(0)-thal deletions can also be found. In this study, we report a case with an atypical form of Hb
The contribution of extramedullary hematopoiesis to hepatomegaly in anemic hydrops fetalis: a study in alpha-thalassemia hydrops fetalis.
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Massive hepatomegaly is a common finding in hydrops fetalis (HF) arising from hemoglobinopathies. It has been suggested that extramedullary hematopoiesis, which is markedly increased in response to anemia, plays a principal role in hepatomegaly via sinusoidal obstruction and distortion of the
Characterization of Hb Bart's Hydrops Fetalis Caused by - -SEA and a Large Novel α0-Thalassemia Deletion.
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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 functional α-globin genes of hemoglobin (Hb), resulting in no α-globin chain production (- -/- -). Homozygosity for the - -SEA (Southeast Asian)
Invasive prenatal diagnosis of α-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience.
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OBJECTIVE
The aim of the present study was to report experiences with invasive prenatal diagnosis of α-thalassemia for the prevention of Hb Bart's hydrops fetalis syndrome in the Guangxi Zhuang Autonomous Region, China.
METHODS
Pregnant women and their partners who tested positive for α0-thalassemia
Molecular characterization of severe alpha-thalassemias causing hydrops fetalis in Taiwan.
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alpha-Thalassemia hydrops fetalis is a common disorder in Taiwan. The condition causes perinatal death and many maternal obstetrical complications. In order to determine the molecular defects of this condition in Chinese, 87 unrelated families with this disorder were collected in the past 4 years.
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