Effect of consanguinity on screening for thalassemia

New England Journal of Medicine

Volumn 347, Issue 15, 2002, Pages 1200-1202

  Cao, Antonio ^a   Galanello, Renzo ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; DEFEROXAMINE; HEMOGLOBIN;

AUTOSOMAL RECESSIVE DISORDER; BETA THALASSEMIA; BLOOD TRANSFUSION; BONE MARROW TRANSPLANTATION; CONFIDENTIALITY; CONSANGUINEOUS MARRIAGE; EDITORIAL; ERYTHROPOIESIS; GENETIC SCREENING; HEALTH CARE COST; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IRON CHELATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PRIVACY; THALASSEMIA MAJOR;

BETA-THALASSEMIA; CONSANGUINITY; GENETIC SCREENING; HETEROZYGOTE; HUMANS; PRENATAL DIAGNOSIS;

EID: 0037057597     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMe020086     Document Type: Editorial

References (11)

1. The laboratory diagnosis of the thalassaemias. In: Weatherall DJ, Clegg JB. The thalassaemia syndromes. 4th ed. Oxford, England: Blackwell Science, 2001:686-723.
2. Rachmilewitz EA, Schrier SL. Pathophysiology of β-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of hemoglobin: genetics, pathophysiology, and clinical management. Cambridge, England: Cambridge University Press, 2001:233-51.
3. Forget BG. Molecular mechanisms of beta thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of hemoglobin: genetics, pathophysiology, and clinical management. Cambridge, England: Cambridge University Press, 2001:252-76.
4. Olivieri NF. The β-thalassemias. N Engl J Med 1999;341:99-109. [Erratum, N Engl J Med 1999;341:1407.]
5. Lucarelli G, Galimberti M, Giardini C, et al. Bone marrow transplantation in thalassemia: the experience of Pesaro. Ann N Y Acad Sci 1998;850:270-5.
6. Kan YW, Golbus MS, Trecartin R. Prenatal diagnosis of homozygous beta-thalassaemia. Lancet 1975;2:790-1.
7. Rosatelli C, Falchi AM, Tuveri T, et al. Prenatal diagnosis of beta-thalassaemia with the synthetic-oligomer technique. Lancet 1985;1:241-3.
8. Cao A, Galanello R, Rosatelli MC. Prenatal diagnosis and screening of the haemoglobinopathies. Baillieres Clin Haematol 1998;11:215-38.
9. Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic hemoglobin disorders in Pakistan. N Engl J Med 2002;347:1162-8.
10. Kanavakis E, Traeger-Synodinos J. Preimplantation genetic diagnosis in clinical practice. J Med Genet 2002;39:6-11.
11. Hansen M, Kurunczuk JJ, Bower C, Webb S. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 2002;346:725-30.