Hereditary Persistence of Fetal Hemoglobin (HPFH) in Community
Keywords:
HPFH, Hemoglobin F, Hb F, komunitas
Abstract
Hereditary Persistence of Fetal Hemoglobin adalah kasus yang jarang terjadi di komunitas. Kondisi heterogen ini ditandai dengan produksi hemoglobin fetus (Hb F) yang menetap hingga dewasa dimana seharusnya pada usia dewasa produksi hemoglobin dewasa (Hb A) yang mendominasi. HPFH diklasifikasikan dalam dua bentuk yaitu delesi dan non delesi. HPFH dapat dianggap sebagai bentuk talasemia β atau δβ ringan karena kegagalan sintesis rantai β dikompensasi oleh rantai γ setelah periode neonatal. Hb F dapat meningkat pada dewasa akibat kelainan herediter sintesis hemoglobin maupun kondisi dapatan (acquired) dari diagnosis banding kelainan hemoglobin lainnya. Diagnosis HPFH berdasarkan pada keadaan klinis, pemeriksaan darah rutin, dan pemeriksaan laboratorium khusus yaitu dengan mengukur kadar Hb F dan distribusi interseluler Hb F. Metode pemeriksaan Hb F dapat dilakukan dengan metode elektroforesis hemoglobin. Pemeriksaan Hb F bertujuan untuk menegakkan diagnosis adanya kelainan herediter rantai globin dan kondisi dapatan (acquired) lainnya, dimana pada keadaan tersebut, kadar Hb F akan meningkat. Untuk itu diperlukan pengukuran kadar Hb F secara tepat.
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References
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Dameuli, S., Ariyadi, T., & Nuroini, F. (2018). PERBEDAAN KADAR HEMOGLOBIN MENGGUNAKAN Hb METER, SPEKTROFOTOMETER DAN HEMATOLOGY ANALYZER PADA SAMPEL SEGERA DIPERIKSA DAN DITUNDA 20 JAM. https://api.semanticscholar.org/CorpusID:181780799
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Hariharan, P., Kishnani, P., Sawant, P., Gorivale, M., Mehta, P., Kargutkar, N., Colah, R., & Nadkarni, A. (2020). Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India. Annals of Hematology, 99(7), 1475–1483. https://doi.org/10.1007/s00277-020-04081-8
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Patel, S. (2015). Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India. JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH. https://doi.org/10.7860/JCDR/2015/12878.6548
Pritišanac, E., Urlesberger, B., Schwaberger, B., & Pichler, G. (2021). Fetal Hemoglobin and Tissue Oxygenation Measured With Near-Infrared Spectroscopy—A Systematic Qualitative Review. Frontiers in Pediatrics, 9, 710465. https://doi.org/10.3389/fped.2021.710465
Sankaran, V. G., Xu, J., Byron, R., Greisman, H. A., Fisher, C., Weatherall, D. J., Sabath, D. E., Groudine, M., Orkin, S. H., Premawardhena, A., & Bender, M. A. (2011). A Functional Element Necessary for Fetal Hemoglobin Silencing. New England Journal of Medicine, 365(9), 807–814. https://doi.org/10.1056/NEJMoa1103070
Serjeant, G. R., Serjeant, B. E., Mason, K. P., Gibson, F., Osmond, C., Thein, S. L., Happich, M., & Kulozik, A. E. (2022). The haematology of Jamaicans: Red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes. Journal of Community Genetics, 13(2), 229–234. https://doi.org/10.1007/s12687-021-00575-8
Sharma, D., Singhal, S., Woike, P., Rai, S., Yadav, M., & Gaur, R. (2020). Hereditary persistence of fetal hemoglobin. Asian Journal of Transfusion Science, 14(2), 185. https://doi.org/10.4103/ajts.AJTS_71_16
Shaukat, I., Paudel, A., Yassin, S., Höti, N., & Mustafa, S. (2018). Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin. Journal of Community Hospital Internal Medicine Perspectives, 8(6), 380–381. https://doi.org/10.1080/20009666.2018.1536241
Shook, L. M., Haygood, D., & Quinn, C. T. (2021). Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Sickle Cell Anemia. Frontiers in Medicine, 8, 734305. https://doi.org/10.3389/fmed.2021.734305
Steinberg, M. H. (2020). Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes. Journal of Clinical Medicine, 9(11), 3782. https://doi.org/10.3390/jcm9113782
Wartiningsih, M., Brotosudarmo, T. H. P., Kodrat, D. S., & Sugiyatmi, T. A. (2023). Does Drinking Coffee and Tea Affect to the Hemoglobine Level on Women of Reproductive Age at Tengger ? – A Preliminary Research. Jurnal Aisyah : Jurnal Ilmu Kesehatan, 8(3). https://doi.org/10.30604/jika.v8i3.2356
Wulandari, R. D. (2018). Kelainan pada Sintesis Hemoglobin: Thalassemia dan Epidemiologi Thalassemia. Jurnal Ilmiah Kedokteran Wijaya Kusuma, 5(2), 33. https://doi.org/10.30742/jikw.v5i2.340
Zago, M., Wood, W., Clegg, J., Weatherall, D., O’Sullivan, M., & Gunson, H. (1979). Genetic control of F cells in human adults. Blood, 53(5), 977–986. https://doi.org/10.1182/blood.V53.5.977.977
Amato, A., Cappabianca, M. P., Perri, M., Zaghis, I., Grisanti, P., Ponzini, D., & Di Biagio, P. (2014). Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: New and known γ†gene mutations associated with hereditary persistence of fetal hemoglobin. International Journal of Laboratory Hematology, 36(1), 13–19. https://doi.org/10.1111/ijlh.12094
Bhukhanvala, D. S., Sorathiya, S., Surve, R., Nair, S., Italia, K., Colah, R., Ghosh, K., & Gupte, S. C. (2014). Hemoglobin variants in Muslim community in South Gujarat, Western India. International Journal of Laboratory Hematology, 36(1). https://doi.org/10.1111/ijlh.12123
Bollekens, J. A., & Forget, B. G. (1991). Δβ Thalassemia and Hereditary Persistence of Fetal Hemoglobin. Hematology/Oncology Clinics of North America, 5(3), 399–422. https://doi.org/10.1016/S0889-8588(18)30422-2
Carrocini, G. C. D. S., Zamaro, P. J. A., & Bonini-Domingos, C. R. (2011). What influences Hb fetal production in adulthood? Revista Brasileira de Hematologia e Hemoterapia, 33(3), 231–236. https://doi.org/10.5581/1516-8484.20110059
Conley, C. L., Weatherall, D. J., Richardson, S. N., Shepard, M. K., & Charache, S. (1963). Hereditary Persistence of Fetal Hemoglobin: A Study of 79 Affected Persons in 15 Negro Families in Baltimore. Blood, 21(3), 261–281. https://doi.org/10.1182/blood.V21.3.261.261
Dameuli, S., Ariyadi, T., & Nuroini, F. (2018). PERBEDAAN KADAR HEMOGLOBIN MENGGUNAKAN Hb METER, SPEKTROFOTOMETER DAN HEMATOLOGY ANALYZER PADA SAMPEL SEGERA DIPERIKSA DAN DITUNDA 20 JAM. https://api.semanticscholar.org/CorpusID:181780799
Garner, C., Tatu, T., Reittie, J. E., Littlewood, T., Darley, J., Cervino, S., Farrall, M., Kelly, P., Spector, T. D., & Thein, S. L. (2000). Genetic influences on F cells and other hematologic variables: A twin heritability study. Blood, 95(1), 342–346.
Hariharan, P., Kishnani, P., Sawant, P., Gorivale, M., Mehta, P., Kargutkar, N., Colah, R., & Nadkarni, A. (2020). Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India. Annals of Hematology, 99(7), 1475–1483. https://doi.org/10.1007/s00277-020-04081-8
Kaufman, D. P., Khattar, J., & Lappin, S. L. (n.d.). Physiology, Fetal Hemoglobin.
Kesuma, S., & Octavia, E. (2019). Gambaran Fraksi Hemoglobin Penderita Talasemia Menggunakan Metode Elektroforesis Kapiler. Meditory : The Journal of Medical Laboratory, 6(2), 116–124. https://doi.org/10.33992/m.v6i2.450
Mat Ghani, S. N. A., Mohamed Saleh, R., Wan Ab Rahman, W. S., Hassan, M. N., Abdullah, W. Z., Azlan, M., & Zulkafli, Z. (2021). β-globin gene cluster mutations and large deletions among anaemic patients with elevated HbF level in a tertiary teaching hospital in Kelantan, Malaysia. Asia Pacific Journal of Molecular Biology and Biotechnology, 10–18. https://doi.org/10.35118/apjmbb.2021.029.1.02
Michlitsch, J., Azimi, M., Hoppe, C., Walters, M. C., Lubin, B., Lorey, F., & Vichinsky, E. (2009). Newborn screening for hemoglobinopathies in California. Pediatric Blood & Cancer, 52(4), 486–490. https://doi.org/10.1002/pbc.21883
Mosca, A., Paleari, R., Leone, D., & Ivaldi, G. (2009). The relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies. Clinical Biochemistry, 42(18), 1797–1801. https://doi.org/10.1016/j.clinbiochem.2009.06.023
Ojewunmi, O. O., Adeyemo, T. A., Oyetunji, A. I., Inyang, B., Akinrindoye, A., Mkumbe, B. S., Gardner, K., Rooks, H., Brewin, J., Patel, H., Lee, S.-H., Chung, R., Rashkin, S., Kang, G., Chianumba, R., Sangeda, R., Mwita, L., Isa, H., Agumadu, U.-N., … Menzel, S. (2023). The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria [Preprint]. Genetic and Genomic Medicine. https://doi.org/10.1101/2023.05.16.23289851
Patel, S. (2015). Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India. JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH. https://doi.org/10.7860/JCDR/2015/12878.6548
Pritišanac, E., Urlesberger, B., Schwaberger, B., & Pichler, G. (2021). Fetal Hemoglobin and Tissue Oxygenation Measured With Near-Infrared Spectroscopy—A Systematic Qualitative Review. Frontiers in Pediatrics, 9, 710465. https://doi.org/10.3389/fped.2021.710465
Sankaran, V. G., Xu, J., Byron, R., Greisman, H. A., Fisher, C., Weatherall, D. J., Sabath, D. E., Groudine, M., Orkin, S. H., Premawardhena, A., & Bender, M. A. (2011). A Functional Element Necessary for Fetal Hemoglobin Silencing. New England Journal of Medicine, 365(9), 807–814. https://doi.org/10.1056/NEJMoa1103070
Serjeant, G. R., Serjeant, B. E., Mason, K. P., Gibson, F., Osmond, C., Thein, S. L., Happich, M., & Kulozik, A. E. (2022). The haematology of Jamaicans: Red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes. Journal of Community Genetics, 13(2), 229–234. https://doi.org/10.1007/s12687-021-00575-8
Sharma, D., Singhal, S., Woike, P., Rai, S., Yadav, M., & Gaur, R. (2020). Hereditary persistence of fetal hemoglobin. Asian Journal of Transfusion Science, 14(2), 185. https://doi.org/10.4103/ajts.AJTS_71_16
Shaukat, I., Paudel, A., Yassin, S., Höti, N., & Mustafa, S. (2018). Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin. Journal of Community Hospital Internal Medicine Perspectives, 8(6), 380–381. https://doi.org/10.1080/20009666.2018.1536241
Shook, L. M., Haygood, D., & Quinn, C. T. (2021). Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Sickle Cell Anemia. Frontiers in Medicine, 8, 734305. https://doi.org/10.3389/fmed.2021.734305
Steinberg, M. H. (2020). Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes. Journal of Clinical Medicine, 9(11), 3782. https://doi.org/10.3390/jcm9113782
Wartiningsih, M., Brotosudarmo, T. H. P., Kodrat, D. S., & Sugiyatmi, T. A. (2023). Does Drinking Coffee and Tea Affect to the Hemoglobine Level on Women of Reproductive Age at Tengger ? – A Preliminary Research. Jurnal Aisyah : Jurnal Ilmu Kesehatan, 8(3). https://doi.org/10.30604/jika.v8i3.2356
Wulandari, R. D. (2018). Kelainan pada Sintesis Hemoglobin: Thalassemia dan Epidemiologi Thalassemia. Jurnal Ilmiah Kedokteran Wijaya Kusuma, 5(2), 33. https://doi.org/10.30742/jikw.v5i2.340
Zago, M., Wood, W., Clegg, J., Weatherall, D., O’Sullivan, M., & Gunson, H. (1979). Genetic control of F cells in human adults. Blood, 53(5), 977–986. https://doi.org/10.1182/blood.V53.5.977.977
Published
2024-02-12
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Copyright (c) 2024 May Fanny Tanzilia, Minarni Wartiningsih
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