Prenatal diagnosis of hemoglobinopathies and thalassemias;Diagnóstico prenatal de hemoglobinopatías y talasemias

Medicina Clinica

Volumn 132, Issue 2, 2009, Pages 53-56

  Ropero, Paloma ^a   González, Fernando Ataúlfo ^a   Hernández, Aurora ^a   Sánchez, Henar ^a   Cela, Elena ^b   Villegas, Ana ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

Author keywords

Prenatal diagnosis; Structural hemoglobinopathies; Thalassemias

Indexed keywords

ARTICLE; BETA THALASSEMIA; FEMALE; HEMOGLOBINOPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; PREGNANCY; PRENATAL DIAGNOSIS;

FEMALE; HEMOGLOBINOPATHIES; HUMANS; MALE; PRENATAL DIAGNOSIS; THALASSEMIA;

EID: 63149169579     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2008.09.012     Document Type: Article

References (10)

1. Angastiniotis M., Modell B., Englezos P., and Boulyjenkov V. Prevention and control of haemoglobinopathies. Bull World Health Organ. 73 (1995) 375-386
2. Weatherall D.J., and Clegg J.B. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 79 (2001) 704-712
3. Villegas A., Ropero P., González F.A., Anguita E., and Espinós D. The thalassaemia syndromes. Molecular characterization in Spanish population. Hemoglobin. 25 (2001) 273-283
4. Decorte R., Cuppens H., Marynen P., and Cassiman J.J. Rapid detection of hypervariable regions by polymerase chain reaction technique. DNA Cell Biol. 9 (1990) 461-469
5. Joyanes B., Moro M., Ropero P., Briceño O., Dulín E., and Villegas A. Cribado de hemoglobinopatias en una cohorte de recién nacidos en la Comunidad de Madrid. Med Clin (Barc). 126 (2006) 290-292
6. Mañú-Pereira M.M., Cabot A., Martínez González A., Sitjà Navarro E., Cararach V., Sabrià J., et al. Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en Cataluña. Estudio molecular de la anemia falciforme asociada a alfatalasemia y déficit de G6PD. Med Clin (Barc). 129 (2007) 161-164
7. Fortuny A. Técnicas invasivas en diagnóstico prenatal: amniocentesis, biopsia corial y cordocentesis. JANO. 58 (2000) 77
8. Jackson L.G., Zachary J.M., Fowler S.E., Desnick R.J., Golbus M.S., Ledbetter D.H., et al. A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The US National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med. 327 (1992) 594-598
9. Wu R.C., and Kuo P.L. Amplification of bet-globin gene from single blastomeres. J Formosa Med Assoc. 93 (1994) 200-2004
10. Fiorentino F., Biricik A., Nuccitelli A., De Palma R., Kahraman S., Sertyel S., et al. Rapid protocol for pre-conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients. Prenat Diagn. 28 (2008) 62-64