Abstract
The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule. They are among the most common inherited diseases around the world. Those that produce abnormal hemoglobin are called structural hemoglobinopathies while thalassemia is another type of disorder that is caused by a defect in the gene production of the globin chains. In a study ambispective comprising 1623 patients, 153 subjects showed an abnormal hemoglobin and 1470 with hypochromic and microcytic anemia, and of these 1470, 23 patients were studied for simultaneously α-thalassemias and structural hemoglobinopathies. Among the α-thalassaemia cases, 1282 cases (87.2%) were deletional α-thalassemia, 172 cases (11.7%) were non-deletional α-thalassemia, and 16 cases (1.1%) were deletional and non-deletional α-thalassamias simultaneously. Thus, approximately 12% of the cases were non-deletional α-thalassaemia. Clinical diagnosis, only 19 severe cases (1 hydrops fetalis and 18 instances of Hb H disease), 1200 thalassamias traits, and 160 thalassaemia silent carriers were recorded within the α-thalassaemia. Regarding structural hemoglobinopathies, there were only 2 cases of hemoglobinopathies with low oxygen affinity and 1 case of hemoglobin M; the remaining 150 were silent hemoglobinopathies. Non-deletional α-thalassaemia represented 12% of all α-thalassemias in our region; the most common deletion in our area was the 3.7-kb deletions, followed by Asian --(SEA) and --(FIL). The alterations responsible for non-deletional α-thalassaemia are most represented by the Hph and Hb Groene Hart and, in the case of structural hemoglobinopathies, Hb Le Lamentin and Hb J-Paris.
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References
Bird GW (1972) The hemoglobinopathies. Br Med J 1(5796):363–368
Harteveld CL, Higgs DR (2010) Alpha-thalassaemia. Orphanet J Rare Dis 5(1):13
Payandeh M, Rahimi Z, Zare ME, Kansestani AN, Gohardehi F, Hashemian AH (2014) The prevalence of anemia and hemoglobinopathies in the hematologic clinics of the Kermanshah province, Western Iran. Int J Hematol Oncol Stem Cell Res 8:33–37
Thom CS, Dickson CF, Gell DA, Weiss MJ (2013) Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harb Perspect Med 3:a011858
Weatherall DJ, Clegg JB (2001) The thalassemia syndromes, 4th edn. Blackwell Science, Oxford
INE (National Institue of Statistics) (2014) [database]. http://www.ine.es/. Accessed Feb 2015
Luo HY, Irving I, Prior J, Lim E, Eung SH, Skelton TP, Erber WN, Steinberg MH, Chui DHK (2004) Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of northern European background. Am J Hematol 77(4):384–386
de la Fuente-Gonzalo F, Nieto JM, Ricard P, Anguita J, Martinez R, Cervera A et al (2015) Hb Cervantes, Hb Maranon, Hb La Mancha and Hb Goya: description of 4 new hemoglobinopathies. Clin Biochem 48(10–11):662–667
Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, Wajcman H, Hardison RC (2004) Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 32(Database issue):D537-41. https://doi.org/10.1093/nar/gkh006
Pulsinelli PD, Perutz MF, Nagel RL (1973) Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme. Proc Natl Acad Sci U S A 70(12):3870–3874
Polacre B, María O, Fernández G, Ataúlfo F, Gradilla R, Paloma R, Ana G, Maczy B, José C, Carolina M, Martínez V (2011) Ana, a talasemia no deleción en España. Índices hematológicos anormales y su estudio molecular. Investig Clin 52:111–120
Farra C, Badra R, Fares F, Muwakkit S, Dbaibo G, Dabbous I, Ashkar H, Mounsef C, Abboud MR (2015) Alpha thalassemia allelic frequency in Lebanon. Pediatr Blood Cancer 62(1):120–122
Pornprasert S, Phusua A, Suanta S, Saetung R, Sanguansermsri T (2008) Detection of alpha-thalassemia-1 southeast Asian type using real-time gap-PCR with SYBR Green1 and high-resolution melting analysis. Eur J Haematol 80(6):510–514
de la Fuente-Gonzalo F, Ropero P, Martínez-Nieto J, Villegas A, González FA, Díaz-Mediavilla J (2015) Association between hemoglobin Groene hart and hemoglobin J-Paris-I: first case in Spain. Med Clin (Barc) 144:212–215
de la Fuente-Gonzalo F, Nieto JM, Vinuesa L, Sevilla J, Díaz-Mediavilla J, Villegas A et al (2014) Hb Cibeles [α2 CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia. Int J Hematol 100:599–601
de la Fuente-Gonzalo F, Nieto JM, Velasco D, Cela E, Pérez G, Fernández-Teijeiro A et al (2016) HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies. Clin Chem Lab Med 54:553–560
Ropero P, González-Borrachero ML, Peña A, González FA (2013) de la Fuente-Gonzalo, F, Martínez J, et al. Hb Nunobiki [α2 141 (HC3) Arg>Cys; HBA2:c.424C>T] in Spain: mutation de novo or acquired? J Genet Syndr Gene Ther 4:180
de la Fuente-Gonzalo F, Martínez Nieto J, Torrejón MJ, Mayor LA, Velasco D, González Fernández FA et al (2015) Hb Burgos (α1 CD64(E13)(Asp→Asn)): a new hemoglobin variant detected during follow-up of diabetic patients. Med Clin (Barc) 144:26–29
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The study was reviewed and approved by the Ethics Committee of the Hospital Clínico San Carlos, Madrid, Spain. All the procedures were performed in accordance with the principles of the Declaration of Helsinki.
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de la Fuente-Gonzalo, F., Nieto, J.M., Villegas, A. et al. Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014. Ann Hematol 98, 1537–1545 (2019). https://doi.org/10.1007/s00277-019-03696-w
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DOI: https://doi.org/10.1007/s00277-019-03696-w