A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia
نویسندگان
چکیده
منابع مشابه
Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.
Neonatal cyanosis in healthy newborns can be associated either with methemoglobin due to cytochrome b5 reductase deficiency or to M-hemoglobin, a group of hemoglobin variants resulting from mutations in the globin chain genes. We report the clinical case of a neonate with cyanosis and normal cardiac and respiratory function. At birth the hematological parameters were normal; however, the methem...
متن کاملSevere hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick).
We have investigated a 13-year-old girl from first cousin parents who presented with severe hemolytic anemia. Hematologic studies showed unstable hemoglobin (Hb) disease (chronic Heinz body anemia), and DNA analysis showed that the patient was homozygous for the previously reported abnormal Hb called Hb Bushwick (beta 74E18 gly-->val). Hb Bushwick is unstable in vitro and in vivo. In addition, ...
متن کاملDesigning preterm neonatal cyanosis simulation
Premature newborns have a lower survival expectancy than full term neonates. Determining their possible health risks is crucial. Training for health risk assessment is one of the factors that might help in lowering the mortality of premature neonates. The paper describes the design approach to develop a premature neonate simulator showing colorization of the facial skin to simulate cyanosis to ...
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 کاملHemoglobin North Shore: a variant hemoglobin associated with the phenotype of beta-thalassemia.
Hemoglobin (Hb) North Shore (beta 134 val leads to glu) is a mutant hemoglobin that is associated with the phenotype of mild heterozygous beta-thalassemia. Heterozygotes are characterized low normal hemoglobin levels or mild anemia, microcytosis, increased HbA2, and 34%-38% Hb North Shore. The mechanism of the anemia and microcytosis associated with Hb North Shore was explored by studies of hem...
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: New England Journal of Medicine
سال: 2011
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1013579