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Journal of Inherited Metabolic Disease

, Volume 30, Issue 4, pp 522–529 | Cite as

Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg

  • M. Lindner
  • G. Abdoh
  • J. Fang-Hoffmann
  • N. Shabeck
  • M. Al Sayrafi
  • M. Al Janahi
  • S. Ho
  • M. O. Abdelrahman
  • T. Ben-Omran
  • A. Bener
  • A. Schulze
  • H. Al Rifai
  • G. Al Thani
  • G. F. Hoffmann
Newborn Screening

Summary

Qatar is a country in the Gulf area and member of the Gulf Cooperation Council states. The country is populated by original Qatari tribes that amount to about 200 000 people and about 600 000 expatriates mainly from Arabic and Asian countries. Inbreeding over centuries and high rates of consanguinity in the Qatari population and in some groups of expatriates, in addition to large family sizes and rapid population growth, have contributed to a high frequency of autosomal recessive disorders. In December 2003 Hamad Medical Corporation in Doha and the University Children’s Hospital of Heidelberg, Germany, started an extended state-wide neonatal screening programme for metabolic and endocrine disorders, with the laboratory situated in Heidelberg, Germany. All aspects of the screening process had to be adapted to the unique situation of the laboratory being 6000 km from the birthplace of the neonates. Within 32 months, samples of 25 214 neonates were screened. In 28 cases an endocrine or metabolic diagnosis was identified (incidence 1:901, in Germany 1:1728). In particular, a variety of monogenic metabolic diseases were prevalent, with 19 patients detected giving an incidence of metabolic diseases of 1:1327 (Germany 1:2517). Each euro spent on the screening programme saved more than 25 euros in health and social costs. The programme revealed a high incidence of treatable inborn metabolic diseases in the population of Qatar. A reliable screening for classical homocystinuria showing a unique incidence of >1:3000 and for sickle cell disease has now been added.

Keywords

Congenital Adrenal Hyperplasia Congenital Hypothyroidism Neonatal Screening Gulf Cooperation Council Homocystinuria 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Supplementary material

10545_2007_Article_553_ESM1.pdf (99 kb)
Figure S1 (PDF 98.5 kb)
10545_2007_Article_553_ESM2.pdf (99 kb)
Figure S2 (PDF 98.5 kb)

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Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  • M. Lindner
    • 1
    • 3
  • G. Abdoh
    • 2
  • J. Fang-Hoffmann
    • 1
  • N. Shabeck
    • 2
  • M. Al Sayrafi
    • 2
  • M. Al Janahi
    • 2
  • S. Ho
    • 1
  • M. O. Abdelrahman
    • 2
  • T. Ben-Omran
    • 2
  • A. Bener
    • 2
  • A. Schulze
    • 1
  • H. Al Rifai
    • 2
  • G. Al Thani
    • 2
  • G. F. Hoffmann
    • 1
  1. 1.Department of PediatricsRuprecht-Karls-UniversityHeidelbergGermany
  2. 2.Department of PediatricsHamad Medical CorporationDohaQatar
  3. 3.Stoffwechselzentrum Heidelberg, Sektion für angeborene StoffwechselkrankheitenUniversitätsklinik für Kinder- und JugendmedizinHeidelbergGermany

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