Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori

Article Abstract:

The sickle cell trait is a condition in which one hemoglobin gene is normal (the A gene) and one is abnormal (the S gene); in most cases, it is associated with no symptoms because enough normal hemoglobin (the protein that carries oxygen in the blood) is made to prevent polymerization of hemoglobin S. Polymerization of hemoglobin S leads to, among other consequences, changes in the shape of red blood cells (sickling), and reduced oxygen-carrying capacity of the blood. The case report is presented of a three-year-old girl who developed severe pain in the region of her umbilicus. She was initially diagnosed with sickle cell trait using standard diagnostic methods, but further studies revealed the presence of another abnormal hemoglobin known as hemoglobin Quebec-Chori beta F3 (Chori is an acronym for the Children's Hospital Oakland Research Institute in California). Both the patient and her mother had normal hemoglobin A and the abnormal variant. The properties of hemoglobin Quebec-Chori are described. When combined with hemoglobin S, however, the polymerization delay time was similar to that of pure hemoglobin S, rather than being close to the longer delay time of standard mixtures of hemoglobins A and S. The case illustrates the possibility that complications associated with sickle cell trait may really be due to the presence of a hemoglobin variant that does not reveal itself with standard tests (electrophoresis). A peripheral-blood film and a complete blood count, including reticulocytes (young erythrocytes), were necessary to establish this diagnosis. Hemoglobin Quebec-Chori is the first electrophoretically silent variant described that is capable of causing sickle cell disease when it is inherited with hemoglobin S. Such a variant should be suspected in patients with sickle cell trait and symptoms of sickle cell disease. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Identification and classification, Hemoglobin S, Sickle hemoglobin

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A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders

Article Abstract:

The fatty acid butyrate may stimulate fetal-globin production in patients with sickle cell anemia and beta-thalassemia. These two diseases are caused by mutations affecting blood hemoglobin, and increasing fetal-globin levels lowers the pain and risk of death associated with the disorders. Six patients, three with sickle cell anemia and three with beta-thalassemia syndromes, began intravenous butyrate treatment. Fetal-globin production rose up to 45% in all patients. Not only did the total fetal-globin produced per cell increase, but also the proportion of cells producing fetal-globin increased. The hemoglobin level in one patient who received treatment for seven weeks rose from 4.7 grams (g) per deciliter to 10.2 g per deciliter. Only mild side effects from the butyrate treatment were observed.

Drug therapy, Thalassemia

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Sickle cell disease and the endothelium

Article Abstract:

The interaction of sickled red blood cells with the endothelium could explain the painful crises that patients with sickle cell anemia sometimes develop. The endothelium is the lining inside blood vessels and some endothelial cells can break away and circulate in the blood. A 1997 study found that sickle cell patients in crisis had activated endothelial cells in their blood. Once activated, these cells could cause a cascade of events leading to the formation of blood clots. The cells could also be cultured in a laboratory so that drugs could be tested to prevent sickled cells from attaching to these endothelial cells.

Editorial, Physiological aspects, Endothelium

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