Genetica en venezuela

Community Genet 2004;7:153–156 DOI: 10.1159/000080788

Medical Genetics in Zulia, a State of Venezuela
Sandra Gonzalez-Ferrer a Lennie Pineda-Bernal a Wilmer Delgado-Luengo a ´ Heber Villalobos-Cabrera a, b
of Medical Genetics, Faculty of Medicine, Zulia University, and b Institute for the Control and Preservation of the Lake Maracaibo, Maracaibo, Venezuela
a Unit

Key Words Medicalgenetics W Venezuela W Zulia

Demographic and Health Indicators

Abstract Zulia is a state located in the northwest of Venezuela. Congenital malformations, deformities and chromosomal anomalies are the second cause of infant and neonatal mortality. There are seven public and private groups providing genetic services, the most important of which, the Medical Genetic Unit at the Zulia University wascreated in 1973. So far, this unit has provided genetic services to 12,000 families, and has been responsible for undergraduate and postgraduate education in human and medical genetics. Prenatal diagnosis is performed at the Unit and a private practice group, the most frequent referral reason being advanced maternal age. The most frequent genetic diseases in the state are Huntington’s disease,sickle cell anemia, neural tube defects and Down’s syndrome. Research in genetics includes the clinical, epidemiological and molecular characterization of hereditary diseases, cancer, reproductive problems and genetic diversity. Other public groups are conducting research on dementias, including Alzheimer’s disease, and on the genotoxic effects of environmental pollutants.
Copyright © 2004 S. KargerAG, Basel

Zulia is a state located in the northwest of Venezuela; it extends over a surface of 63,100 km2 (6.92% of the national territory) and is divided into 21 municipalities [1]. It is the country’s most populated entity, with close to 3 million inhabitants, and a population density of 65.46 persons/km2. In 2001, 34.2% of the population were under 15 years of age, 61.4% were between 16 and64 years, and 4. 4% were 65 or older. 86.8% of the population live in urban areas and 8.9% are indigenous. The capital is Maracaibo, where 40.8% of the state’s inhabitants reside [2]. Zulia ranks second in the country’s political and economical importance. Its economy depends on petroleum, agriculture and cattle raising, generating an income which surpasses the regional mean and constitutes theprincipal national economy support. The Ministry of Health and Social Welfare (MSDS, Spanish acronym) regulates and controls public and private institutions that provide health services. The public sector is formed by the MSDS, the Venezuelan Social Security System (IVSS) and health care institutions depending on municipalities or local governments. Severe coverage deficiencies, difficult access andpoor quality are the characteristics of the health services in the public sector [3]. In 2000, the network of private and public medical care establishments consisted of 35 hospitals: 27 (77%)

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© 2004 S. Karger AG, Basel 1422–2795/04/0073–0153$21.00/0 Accessible online at: www.karger.com/cmg

Sandra Gonzalez-Ferrer ´ Unidadde Genética Médica, Facultad de Medicina La Universidad del Zulia, Apartado 15.374 Maracaibo (Venezuela) Tel. +58 261 7415247, Fax +58 261 7868631, E-Mail sgonzalezf@cantv.net

were part of the MSDS or local governments, 3 were from the IVSS, and the remaining 6 from other institutions. In addition, 342 ambulatory health centers existed, of which 296 were under the MSDS [4]. In 2001, 6.6% ofthe national budget was assigned to the MSDS, of which 70% was assigned to the hospital system, 20% to the primary care and the remaining 10% for the system management [4]. In Zulia State, life expectancy at birth is 73.85 years, total fertility rate is 2.4 children per women, and the birth rate is 20.66 per 1,000 inhabitants. In 2001, 67,929 live births were reported, 3. 97% were born from...