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Hemoglobinopathies in Yugoslavia: an update.

G D Efremov1

  • 1Macedonian Academy of Sciences and Arts, National Reference Laboratory for Hemoglobinopathies, Skopje, Republic of Macedonia, Yugoslavia.

Hemoglobin
|January 1, 1992
PubMed
Summary

This study details the epidemiology and molecular basis of hemoglobinopathies in Yugoslavia, identifying common beta-thalassemia mutations and alpha-thalassemia deletions. It provides a comprehensive overview of these genetic blood disorders in the region.

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Area of Science:

  • Hematology
  • Human Genetics
  • Molecular Biology

Background:

  • Hemoglobinopathies, including thalassemia and abnormal hemoglobins, represent significant public health concerns globally.
  • Yugoslavia, prior to its dissolution, had a diverse genetic landscape necessitating regional studies on blood disorders.

Purpose of the Study:

  • To summarize the epidemiological data and molecular characteristics of hemoglobinopathies in Yugoslavia.
  • To define the prevalence and specific genetic defects of beta-thalassemia, delta beta-thalassemia, hereditary persistence of fetal hemoglobin, and alpha-thalassemia.

Main Methods:

  • Population surveys of over 28,000 school children and screening of 6,400 newborns across Yugoslavia (excluding Slovenia).
  • Molecular analysis of beta-thalassemia chromosomes (over 250 studied) and DNA from delta beta-thalassemia cases (over 30 studied).
  • Characterization of alpha-thalassemia defects and incidence of abnormal hemoglobins through family studies.

Main Results:

  • The average incidence of beta-thalassemia trait was 1.2%, with significant regional variation. Delta beta-thalassemia and hereditary persistence of fetal hemoglobin frequencies were 0.2% and 0.4%, respectively. Alpha-thalassemia trait occurred in 1.6% of newborns.
  • Eighteen beta-thalassemia mutations were identified, with three accounting for over 70% of cases. Four novel mutations and one deletion were characterized.
  • Various deletions and a 5-nucleotide deletion were found in alpha-thalassemia. Abnormal hemoglobins (Hbs) occurred in 0.3% of the population, with diverse alpha, beta, and delta chain variants observed.

Conclusions:

  • The molecular basis of most beta-thalassemia in Yugoslavia is well-defined, with specific mutations being predominant.
  • Delta beta-thalassemia and alpha-thalassemia exhibit diverse molecular defects, including several novel deletions.
  • This comprehensive study provides crucial epidemiological and molecular insights into hemoglobinopathies in the former Yugoslavia, essential for genetic counseling and public health strategies.

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