Hereditary persistence of fetal hemoglobin in adult
DOI:
https://doi.org/10.23925/1984-4840.2022v24i1/4a12Keywords:
fetal hemoglobin, blood protein electrophoresis, hemoglobinopathiesAbstract
Case report: We describe a case of a 24-year-old patient, college student, with a laboratory finding showing a high quantitative level of fetal hemoglobin, but without clinical repercussions or other associated hemoglobinopathies. Hemoglobin electrophoresis showed the presence of 27.3% of HbF, with absence of HbS and HbC and decreased amount of HbA (70%), whose reference value for healthy adults is >95%. In addition, we found expected levels of HbA2 and absence of qualitative changes and amounts in red series of the Blood count. As information was obtained through anamnesis and interview with the patient, serial review of laboratory tests, including hemoglobin electrophoresis through high performance liquid chromatography, review of medical literature and photographic records of oxygen saturation in the blood through pulse oximetry of the patient during physical exercise. Discussion: No quantitative and qualitative changes were observed in the hematimetric indices of the patient or decrease in performance during vigorous physical exercise. Conclusion: There was no evidence to demonstrate clinical impairment for the patient with the condition. It is evident that the laboratory finding of hereditary persistence of fetal hemoglobin synthesis is important for the study of its most varied genotypes and phenotypes of presentation, however it is pertinent to corroborate its benign clinical character for the patient.
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Galiza Neto GC, Pitombeira MS. Aspectos moleculares da anemia falciforme. J Bras Patol Med Lab. 2003;39(1):51–6. doi: 10.1590/S1676-2444200300010001.
OpenStax College. Anatomy and physiology [Internet]. [acesso em 30 abr. 2023]. OpenStax CNX. Disponível em: http://cnx.org/contents/14fb4ad7-39a1-4eee-ab6e-3ef2482e3e22@11.1
Hemoglobin and myoglobin. The medical biochemistry page [Internet]. [acesso em 30 abr. 2023]. Disponível em: http://themedicalbiochemistrypage.org/hemoglobin-myoglobin.php
Sargento L. Síntese da hemoglobina durante o desenvolvimento fetal em hemoglobina. Actas Bioquím. 2007;8:27-33.
Phin H, Voon J, Vadolas J. Controling a-globin a review of a-globin expression and it's impact on b-thalassemia. Haematologica 2008;93:1868-76. doi: 10.3324/haematol.13490.
Bauer DE, Orkin SH. Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev. 2023;33:62-70. doi: 10.1016/j.gde.2015.08.001.
Cançado DR, Jesus AJ. A doença falciforme no Brasil. Rev Bras Hematol Hemoter. 2007;29(3):204-6. doi: 10.1590/S1516-84842007000300002.
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