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Abstract
Hemoglobinopathies are qualitative or quantitative genetic disorders that affect the globin chains, whose consequence may be a structural modification (structural hemoglobinopathies) or a decrease in the synthesis of a structurally normal globin chain (thalassemias). Its clinical expression is very variable and early detection is crucial for proper management and genetic counseling. We present a diagnostic lab algorithm for the study of these conditions and the results obtained during its application during one year and four months. The study included 626 samples from patients of several tertiary hospitals in Barcelona and other nearby cities in Catalonia. Screening was performed by means of results of blood cell parameters (mean corpuscular volume, anemia, red blood cell count), HPLC and molecular biology techniques. The diagnosis was made in 83% of the patients (517 samples). In the rest, the algorithm was not completed due to lack of clinical relevance in most cases. Rational and protocolized interpretation of several analytical results highlights the importance of the laboratory in the integrated diagnosis of this type of pathology.
References
2. Ribeiro DM, Sonati MF. Regulation of human alpha-globin gene expression and alpha thalassemia. Genet Mol Res. 2008; 7(4):1045-53.
3. Hedlund B. Hemoglobins of human embryos, fetuses, and neonates. In: Fairbanks VF, ed. Hemoglobinopathies and thalassemias. New York: Brian C. Decker, 1980:14-7.
4. Bunn HF. Subunit assembly of hemoglobin: an important determinant of hematologic phenotype. Blood. 1987; 69(1): 1-6.
5. Tang DC, Ebb D, Hardison RC, Rodgers GP. Restoration of the CCAAT box or insertion of the CACCC motif activates delta-globin gene expression. Blood. 1997 Jul 1;90(1):421-7.
6. Kosche KA, Dobkin C, Bank A. DNA sequences regulating human beta globin gene expression. Nucleic Acids Research. 1985;13(21):7781-7793.
7. Thein SL. The Molecular Basis of β-Thalassemia. Cold Spring Harbor Perspectives in Medicine. 2013;3(5):a011700.
8. Haemoglobinopathy Diagnosis, Second Edition. Blackwell Publishing Ltd. 2006, Massachusetts (USA).
9. Galanello R, Cao A. Gene test review. Alpha thalassemia. Genetics in Medicine. 2011;13(2):83-8.
10. Kohne E. Hemoglobinopathies: Clinical Manifestations, Diagnosis, and Treatment. Deutsches Ärzteblatt International. 2011;108(31-32):532-540.
11. Williams TN, Weatherall DJ. World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies. Cold Spring Harbor Perspectives in Medicine. 2012;2(9):a011692.
12. R. M. Schmidt. The ICSH Expert Panel on Abnormal Hemoglobins and Thalassemia: Its Structure and Function. Hemoglobin. 1977. 1:8, 741-745.
13. Clarke GM, Higgins TN. Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Clinical Chemistry. 2000;46(8 Pt 2):1284-90.
14. Lafferty JD, Crowther MA, Ali MA, Levine ML. The evaluation of various mathematical RBC indices and their efficacy in discriminating between thalassemic and non-thalassemic microcytosis. Am J Clin Pathol 1996;106:201–5.
15. Eastman JW, Wong R, Liao C, Morales D. Automated HPLC screening of newborns for sickle cell anemia and other hemoglobinopathies.Clinical Chemistry 1996;42:704–10.
16. Stephens, A.D. & Angastniotis, Michael & Baysal, Erol & Chan, Vivian & Fucharoen, Surak & Giordano, Piero & Hoyer, J.D. & Mosca, A.D. & Wild, B. (2012). ICSH recommendations for the measurement of Haemoglobin A2. International journal of laboratory hematology. 34. 1-13.
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