منابع مشابه
Hemoglobinopathy or Analytical Interference?
1 Bégin Military Teaching Hospital, Department of Biology, 94 163 Saint Mandé, France. * Address correspondence to this author at: BéginMilitary TeachingHospital, Department of Biology, 69 avenue de Paris, 94 163 Saint Mandé, France. Fax +33-1-43-98-47-12; e-mail [email protected]. Received March 17, 2015; accepted April 16, 2015. DOI: 10.1373/clinchem.2015.241091 © 2015 American Associ...
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In humans, two pairs of unlike globin chains combine with four heme groups to form hemoglobin (Hb), a protein that is carried by red cells and picks up oxygen in the lungs and delivers it to the peripheral tissues. One of the globin chain pairs in hemoglobin is always alpha (with the exception of the very first weeks of embryogenesis), while the second pair is ―nonalpha.‖ That is, it can be mad...
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We attempted to measure the benefits of a communitywide hemoglobinopathy screening program by reviewing the numbers of newborns detected to have a hemoglobinopathy, the level of utilization of prenatal diagnostic services, and the number of hemoglobinopathies diagnosed prenatally. We measured the effect of our program on 14,051 infants born over a five year period and their families. Results: T...
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We report the case of a 35-year-old Tunisian women with a chronic anemia non investigated for a long time. Laboratory analysis using advanced technology of DNA sequencing revealed a compound heterozygote for Hb O Arab and cd 39 beta degrees-thalassemia. It's the first time that such a genotype has been characterized by gene sequencing.
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The relevance of this case lies in the extensive diagnostic workup that can be avoided with proper laboratory evaluation of relatively unsophisticated tests.
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2017
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2016.270496