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- W112767952 abstract "Publisher SummaryThis chapter discusses different kinds of hemoglobinopathies and presents techniques for their diagnosis and management. Sickle hemoglobin is the most common abnormal hemoglobin found in the United States. The incidence of sickle cell disease (SCD) at birth is approximately 1 in 600 African-Americans. Sickle cell disease is transmitted as an autosomal co-dominant trait. Homozygotes (two abnormal genes, SS) do not synthesize hemoglobin A (Hb A); beyond infancy, red cells contain >75% hemoglobin S (Hb S). Heterozygotes (one abnormal gene), sickle cell trait, have red cells containing 20–45% Hb S. On the other hand thalassemia syndromes are characterized by varying degrees of ineffective hematopoiesis and increased hemolysis. Clinical syndromes are divided into α- and β-thalassemias, each with varying numbers of their respective globin genes mutated. Sickle cell trait provides selective advantage against Plasmodium falciparum malaria. Individuals who have both α-thalassemia and sickle cell disease-SS tend to be less anemic than those who have sickle cell disease-SS alone. The co-inheritance of sickle cell disease and alpha thalassemia trait is associated with a reduction in the risk of some complications, such as stroke, but has no effect on the frequency or severity of vaso-occlusive pain. Substitution in the region of heme attachment causes gross molecular instability. Changes in the oxygen affinity have also been found in some of the unstable haemoglobin and some of the M hemoglobins. An increase in oxygen affinity results in greater tissue anoxia and greater erythropoietin stimulation for a given level of anemia." @default.
- W112767952 created "2016-06-24" @default.
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- W112767952 date "2011-01-01" @default.
- W112767952 modified "2023-09-26" @default.
- W112767952 title "Hemoglobinopathies" @default.
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- W112767952 doi "https://doi.org/10.1016/b978-0-12-375154-6.00008-2" @default.
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