Treatments for sickle cell include antibiotics, pain management and blood transfusions. A new drug treatment, hydroxyurea, which is an anti-tumor drug, appears to stimulate the production of fetal hemoglobin, a type of hemoglobin usually found only in newborns.
Fetal hemoglobin helps prevent the "sickling" of red blood cells. Patients treated with hydroxyurea also have fewer attacks of acute chest syndrome and need fewer blood transfusions.
Currently the only cure for sickle cell disease is bone marrow transplantation. In this procedure a sick patient is transplanted with bone marrow from healthy, genetically compatible sibling donors. However only about 18 percent of children with sickle cell disease have a healthy, matched sibling donor.
Bone marrow transplantation is a risky procedure with many complications. Researchers are experimenting with attempts to cure sickle cell disease by correcting the defective gene and inserting it into the bone marrow of those with sickle cell to stimulate production of normal hemoglobin.
Recent experiments show promise. Researchers used bioengineering to create mice with a human gene that produces the defective hemoglobin causing sickle cell disease.
Bone marrow containing the defective hemoglobin gene was removed from the mice and genetically "corrected" by the addition of the anti-sickling human beta-hemoglobin gene. The corrected marrow was then transplanted into other mice with sickle cell disease. Frequency Sickle cell disease affects millions of people worldwide.
Causes Mutations in the HBB gene cause sickle cell disease. Learn more about the gene associated with Sickle cell disease HBB. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
Research Studies from ClinicalTrials. Am J Epidemiol. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med. Outcome of sickle cell anemia: a 4-decade observational study of patients. Medicine Baltimore. Sickle cell disease; a general overview. Neth J Med. The emerging understanding of sickle cell disease. Br J Haematol. Sickle-cell disease. If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait.
With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. Their blood might contain some sickle cells, but they generally don't have symptoms. They're carriers of the disease, however, which means they can pass the gene to their children.
For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene. In the United States, sickle cell anemia most commonly affects black people. If you carry the sickle cell trait, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia.
They can also explain possible treatments, preventive measures and reproductive options. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version.
Overview Sickle cell anemia Open pop-up dialog box Close. Sickle cell anemia Normal red blood cells are rounded and disk-shaped. Request an Appointment at Mayo Clinic. Editorial New Eng. Herrick, J. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Kark, J. Sickle-cell trait as a risk factor for sudden death in physical training.
Kaul, D. Monoclonal antibodies to alpha-v-beta-3 7E3 and LM inhibit sickle red blood cell-endothelium interactions induced by platelet-activating factor. Kodish, E. Bone marrow transplantation for sickle cell disease: a study of parents' decisions.
Lan, N. Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. Lane, P. Splenic syndrome at mountain altitudes in sickle cell trait: its occurrence in nonblack persons.
JAMA , Fatal pneumococcal septicemia in hemoglobin SC disease. Langdown, J. A new doubly substituted sickling haemoglobin: HbS-Oman. Lazarin, G. Lettre, G. Orkin, S. Luzzatto, L. Sickle cell anemia: a simple disease with no cure. Nature , Manci, E.
Causes of death in sickle cell disease: an autopsy study. Milner, P. Sickle cell disease as a cause of osteonecrosis of the femoral head. Modell, B. Global epidemiology of haemoglobin disorders and derived service indicators. World Health Organ. Monk, M. Detection of both the normal and mutant alleles in single cells of individuals heterozygous for the sickle cell mutation--prelude to preimplantation diagnosis.
Prenatal Diag. Morris, J. The haematology of homozygous sickle cell disease after the age of 40 years. Niihara, Y. A phase 3 trial of l-glutamine in sickle cell disease. Nolan, V. Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia. Hemolysis-associated priapism in sickle cell disease.
Paszty, C. Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease. Pawliuk, R. Correction of sickle cell disease in transgenic mouse models by gene therapy. Pawloski, J. Export by red blood cells of nitric oxide bioactivity.
Impaired vasodilation by red blood cells in sickle cell disease. Pearson, H. Developmental pattern of splenic dysfunction in sickle cell disorders. Pediatrics , Perrine, S. A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders. Delay in the fetal globin switch in infants of diabetic mothers. Piel, F. Sickle cell disease. Platt, O. Mortality in sickle cell disease: life expectancy and risk factors for early death.
The acute chest syndrome of sickle cell disease. Note: Erratum: New Eng. Popp, R. A transgenic mouse model of hemoglobin S Antilles disease. Rees, D. Lancet , Rey, K. Sickle cell-hemoglobin E disease: clinical findings and implications. Rodgers, G. Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease. Ryan, T. Knockout-transgenic mouse model of sickle cell disease. Saiki, R. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.
Savitt, T. Herrick's case report of sickle cell anemia: the rest of the story. Scriver, J. Studies on a case of sickle-cell anaemia. Sebastiani, P. Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Serjeant, G. Elderly survivors with homozygous sickle cell disease. Letter New Eng. Relatively benign sickle cell anaemia in 60 patients aged over 30 in the West Indies.
Shear, H. Transgenic mice expressing human fetal globin are protected from malaria by a novel mechanism. Shesely, E. Correction of a human beta-S-globin gene by gene targeting. Steinberg, M. Sickle cell anemia in septuagenarians. Sickle cell anemia in a septuagenarian. Management of sickle cell disease. Thomas, P.
Height and weight reference curves for homozygous sickle cell disease. Trompeter, S. Haemoglobin F modulation in childhood sickle cell disease. Tshilolo, L. Hydroxyurea for children with sickle cell anemia in sub-Saharan Africa.
Uda, M. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Vichinsky, E. A phase 3 randomized trial of voxelotor in sickle cell disease. Causes and outcomes of the acute chest syndrome in sickle cell disease.
Walker, T. Gallstones in sickle cell disease: observations from the Jamaican Cohort Study. Wang, Y. Weatherall, D. The inherited diseases of hemoglobin are an emerging global health burden. Williams, T. Xu, J. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Xu, K. First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia.
Yawn, B. Management of sickle cell disease: summary of the evidence-based report by expert panel members. Erratum: JAMA only, A number sign is used with this entry because sickle cell anemia is the result of mutant beta globin HBB; in which the mutation causes sickling of hemoglobin. When conditioned on rs, the HbF association result for rs was not significant, indicating that rs is not a causal variant for HbF levels in African Americans with sickle cell anemia.
0コメント