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Pediatric Clinics of North America, 1996
The identification of genetic mutation that causes sickle cell disease 35 years ago has not yet led to a widely applicable, specific therapy that corrects the underlying abnormality of hemoglobin. Nevertheless, recent progress in understanding the pathophysiology and natural history of sickling disorders has led directly to important prophylactic and ...
P. Lane
semanticscholar +3 more sources
The identification of genetic mutation that causes sickle cell disease 35 years ago has not yet led to a widely applicable, specific therapy that corrects the underlying abnormality of hemoglobin. Nevertheless, recent progress in understanding the pathophysiology and natural history of sickling disorders has led directly to important prophylactic and ...
P. Lane
semanticscholar +3 more sources
Variability in sickle cell knowledge by sickle cell status
Journal of Genetic Counseling, 2023Disease‐specific knowledge allows individuals with sickle cell disease, sickle cell trait, and unaffected family members alike to make informed decisions and support those affected by the condition.
Fiona Gilpin-Macfoy +2 more
semanticscholar +1 more source
Annals of Internal Medicine, 2021
Sickle cell disease is an umbrella term for a group of hemoglobinopathies characterized by the presence of 2 β-globin gene mutations or deletions, at least 1 of which is the point mutation that leads to the production of hemoglobin S. Sickle cell disease is associated with hemolytic anemia, significant chronic end-organ damage, and early death. In high-
Lydia H, Pecker, Sophie, Lanzkron
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Sickle cell disease is an umbrella term for a group of hemoglobinopathies characterized by the presence of 2 β-globin gene mutations or deletions, at least 1 of which is the point mutation that leads to the production of hemoglobin S. Sickle cell disease is associated with hemolytic anemia, significant chronic end-organ damage, and early death. In high-
Lydia H, Pecker, Sophie, Lanzkron
openaire +2 more sources
Clinics in Perinatology, 2001
The initiation of newborn screening and its virtually universal implementation will eventually yield a population in which sickle cell disease has been identified and comprehensive care is provided for children. The situation with SCT is different; there will continue to be the identification of parents who have the potential for having a child with a ...
C F, Whitten, W, Whitten-Shurney
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The initiation of newborn screening and its virtually universal implementation will eventually yield a population in which sickle cell disease has been identified and comprehensive care is provided for children. The situation with SCT is different; there will continue to be the identification of parents who have the potential for having a child with a ...
C F, Whitten, W, Whitten-Shurney
openaire +2 more sources
Sickle-cell trait and sickle-cell anaemia
Transactions of the Royal Society of Tropical Medicine and Hygiene, 1951Abstract (1) If sickle-cell trait is regarded as a heterozygous condition (Ss) and sickle-cell anaemia as a homozygous state (SS), then sickle-cell anaemia can only arise as a result of the mating of two heterozygous individuals (Ss x Ss), or the mating of a heterozygous and a homozygous (Ss x SS) or of two homozygous (SS x SS). 1.
H, FOY, A, KONDI, C, ALEXANDRIDES
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Nursing Standard, 2016
Essential facts Sickle cell disease is a group of disorders of red blood cells that is believed to affect up to 15,000 people in the UK. The lifelong condition can have a significant impact on morbidity and mortality.
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Essential facts Sickle cell disease is a group of disorders of red blood cells that is believed to affect up to 15,000 people in the UK. The lifelong condition can have a significant impact on morbidity and mortality.
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Annals of Internal Medicine, 1970
Excerpt Patients with sickle-cell anemia have a defect in renal concentrating ability. This abnormality has been characterized functionally as an inability to attain normal maximum osmolality level...
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Excerpt Patients with sickle-cell anemia have a defect in renal concentrating ability. This abnormality has been characterized functionally as an inability to attain normal maximum osmolality level...
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