Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example

Prenat Diagn. 2009 Dec;29(12):1171-4. doi: 10.1002/pd.2382.

Abstract

Objective: To review prevention data for hemoglobinopathies from Latium, a large Italian region with a considerable immigrant population and with a well-established regional prevention program.

Method: All data pertaining to population screening for hemoglobinopathies in the Latium region were reviewed for the period 1994-2007. Screening was performed universally in secondary schools and to pregnant couples at the time of prenatal care. We have examined the trends in positive screening results as well as the type of hemoglobinopathies detected during the study period, and we have correlated them to the type of population (immigrant vs indigenous).

Results: From 1994 to 2007, 167 235 individuals were examined for carrier status for hemoglobinopathies, and 10 353 of them (6.2%) were immigrants. We have registered a threefold increase in rates of screen-positive subjects who belonged to ethnic minorities during the study period (from 2.7% in 1994 to 9.8% in 2007). Over half of the screen-positive subjects (5397/10 353) presented no hematological anomalies, 24% (n = 2472) had iron deficiency, and 24% (n = 2484) was classified as putative carriers. Among the last group, 22.6% were carriers of beta-thalassemia, 48% were suspected alpha-thalassemia carriers, and the remainder had less common hemoglobinopathies. While the prevention program resulted in nearly zero births of autochthonous newborns affected by severe hemoglobinopathies, a rise in number of affected individuals was noted among immigrants. Screening of secondary school students was accepted by 67% of immigrant parents, resulting in 9737 pupils screened between 2002 and 2006.

Conclusion: Existing preventive programs for severe hemoglobinopathies should adapt to changes in population ethnicities. Screening for hemoglobinopathies at school age is an efficient strategy.

Publication types

  • Evaluation Study

MeSH terms

  • Child
  • Emigration and Immigration* / statistics & numerical data
  • Endemic Diseases / prevention & control*
  • Endemic Diseases / statistics & numerical data
  • Female
  • Gene Frequency
  • Genetic Carrier Screening
  • Genetic Drift
  • Genotype
  • Hemoglobinopathies / epidemiology*
  • Hemoglobinopathies / genetics
  • Hemoglobinopathies / prevention & control*
  • Humans
  • Italy / epidemiology
  • Population
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Preventive Medicine / methods*
  • Preventive Medicine / trends
  • Retrospective Studies
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics