Abstract
The aim of this study was to determine the prevalence and nature of hemoglobin (Hb) defects in a Mediterranean high-level (HL) athlete population. Five hundred and ninety-four HL male and female athletes were recruited during the annual follow-up of the members of Tunisian national teams. Hematological data, Hb electrophoresis, and DNA analysis were assessed using conventional techniques. Sporting discipline, type of sport, and performance levels were assessed using a questionnaire. The results showed that 32 HL athletes had abnormal Hb (5.4%): β-thalassemia (2.2%), α-thalassemia (0.5%), HbAS (1.5%), HbAC (0.5%), and rare Hb variants (0.7%). Of the 32 defect carriers, all but one (a α-thalassemia) were heterozygous. All the detected hemoglobinopathies but one (an Hb Hope) had already been reported in the country. The prevalence of Hb defect in the HL athletes was similar to that described in the general Tunisian population (P > 0.05). The percentage of Hb defect in the athletes was not dependent on gender, or performance level (P > 0.05). Within each type of sport the percentages of athletes with normal and abnormal Hb were similar (P > 0.05). The hematological data revealed the diversity of anemia, microcytosis, and hypochromia in thalassemic HL athletes. We concluded that HL athletes in Tunisia were a representative sample of the general Tunisian population regarding the prevalence and nature of benign abnormal Hb. The hematological data of the thalassemia carriers exhibited high variability and raised the question of genetic and sporting counseling, as well as biological follow-up for these carriers.
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References
Baysal E, Huisman TH (1994) Detection of common deletional alpha-thalassemia-2 determinants by PCR. Am J Hematol 46:208–213
Bianco I, Cappabianca MP, Foglietta E, Lerone M, Deidda G, Morlupi L, Grisanti P, Ponzini D, Rinaldi S, Graziani B (1997) Silent thalassemias: genotypes and phenotypes. Haematologica 82:269–280
Bile A, Le Gallais D, Mercier J, Bogui P, Préfaut C (1998) Sickle cell trait in Ivory Coast athletic throw and jump champions, 1956–1995. Int J Sports Med 19:1–5
Bowden DK, Vickers MA, Higgs DR (1992) A PCR-based strategy to detect the common severe determinants of alpha-thalassaemia. Br J Haematol 81:104–108
Chatard JC, Mujika I, Guy C, Lacour JR (1999) Anaemia and iron deficiency in athletes. Practical recommendations for treatment. Sports Med 27:229–240
Chebil-Laradi S, Pousse H, Khelif A, Ghanem N, Martin J, Kortas M, Ennabli S, Mehdouani K, B’Chir N, Kharrat H (1994) Screening of hemoglobinopathies and molecular analysis of beta-thalassemia in Central Tunisia. Arch Pediatr 1:1100–1105
Chong SS, Boehm CD, Higgs DR (2000) Single-tube multiplex-PCR screen for common deletional of α-thalassemia. Blood 95:360–362
Connes P, Hue O, Tripette J, Hardy-Dessources MD (2008) Blood rheology abnormalities and vascular cell adhesion mechanisms in sickle cell trait carriers during exercise. Clin Hemorheol Microcirc 39:179–184
Fallon KE (2008) Screening for haematological and iron-related abnormalities in elite athletes-analysis of 576 cases. J Sci Med Sport 11:329–336
Fattoum S (2006) Hemoglobinopathies in Tunisia. An updated review of the epidemiologic and molecular data. Tunis Med 84:687–696
Fattoum S, Abbes S (1985) Some data on the epidemiology of hemoglobinopathies in Tunisia. Hemoglobin 9:423–429
Fattoum S, Abbes S, Ben Abdeladhim A, Zayani H, Turky F, Guemira F, Sellami M, Ghanem A, Boussen M (1987) Detection of alpha-thalassemia in Tunisia (across 1500 cases). Tunis Med 65:763–766
Fattoum S, Massaoud T, Bibi A (2004) Molecular basis of β-thalassemia in the population of Tunisia. Hemoglobin 28:177–187
Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goosens M (1992) A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms. Hum Mutat 1:229–239
Gonzalez-Redonto JM, Stoming TA, Kutlar A, Kutlar F, Lanclos KD, Howard EF, fei YJ, Aksoy M, Altay C, Gurgey A, Basak AN, Efremov GD, Petkov G, Huisman THJ (1989) AC → T substitution at nt–101 in a conserved DNA sequence of the promotor region of the β-globin gene is associated with “silent” β-thalassemia. Blood 73:1705–1711
Haj Khelil A, Laradi S, Miled A, Omar Tadmouri G, Ben Chibani J, Perrin P (2004) Clinical and molecular aspects of haemoglobinopathies in Tunisia. Clin Chem Acta 340:127–137
Hickman M, Modell B, Grengross P, Chapman C, Layton M, Falconer S, Davies SC (1999) Mapping the prevalence of sickle cell and beta thalassaemia in England: estimating and validating ethnic-specific rates. Br J Haematol 104:860–867
Ingle J, Adewoye A, Dewan R, Okoli M, Rollins L, Eung SH, Luo HY, Chui DH, Steinberg MH (2004) Hb Hope [beta136(H14)Gly– > Asp (GGT– > GAT)]: interactions with HbS [beta6(A3)Glu– > Val (GAG– > GTG)], others variant hemoglobins and thalassemia. Hemoglobin 28:277–285
Joutovsky A, Nardi M (2004) Hemoglobin C and hemoglobin O-Arab variants can be diagnosed using the Bio-Rad Variant II high-performance liquid chromatography system without further confirmatory tests. Arch Pathol Lab Med 128:435–439
Le Gallais D, Préfaut C, Dulat C, Macabies J, Lonsdorfer J (1991) Sickle cell trait in Ivory Coast Athletic champions. Int J Sports Med 12:509–510
Le Gallais D, Préfaut C, Mercier J, Bilé A, Bogui P, Lonsdorfer J (1994) Sickle cell trait as a limiting factor for high-level performance in a semi-marathon. Int J Sports Med 15:399–402
Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF (1993) Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean β-thalassemia mutations by covalent reverse dot-blot analysis: application diagnosis in Sicily. Blood 81:239–242
Marlin L, Etienne-Julan M, Le Gallais D, Hue O (2005) Sickle cell trait in French West Indian elite sprint athletes. Int J Sports Med 26:622–625
Michlitsch J, Azimi M, Hoppe C, Walters MC, Lubin B, Lorey F, Vichinsky E (2009) Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer 52:486–490
Monchanin G, Connes P, Wouassi D, Francina A, Djoda B, Banga PE, Owona FX, Thiriet P, Massarelli R, Martin C (2005) Hemorheology, Sickle Cell Trait, and alpha-thalassemia in athletes: effects of exercise. Med Sci Sports Exerc 37:1086–1092
Mseddi S, Gargouri J, Labiadh Z, Kassis M, Elloumi M, Ghali L, Dammak J, Harrabi M, Souissi T, Frikha M (1999) Prevalence of haemoglobin abnormalities in Kebili (Tunisian south). Rev Epidemiol Santé Publique 47:29–36
Panigrahi I, Ahmed Rafeeq PH, Choudhry VP, Saxena R (2004) High frequency of deletional α-thalassemia in β-thalassemia trait: implications for genetic counselling. Am J Hematol 76:297–299
Ristaldi MS, Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D, Fanni B, Sciarratta GV, Agosti S, Parodi MI, Leone D, Camaschella C, Serra A, Pirastu M, Cao A (1990) The C–T substitution in the distal CACCC box of the β-globin gene promoter is a common cause of silent β thalassaemia in the Italian population. Br J Haematol 74:480–486
Sambrook J, Maniatis T, Fritsch EF (1989) Molecular cloning. A laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Woodbury
Shaskey DJ, Green GA (2000) Sports haematology. Sports Med 29:27–38
Siala H, Ouali F, Massaoud T et al (2008) Alpha-thalassaemia in Tunisia: some epidemiological and molecular data. J Genet 87:229–234
Thein SL (2005) Genetic modifiers of β-thalassemia. Haematologica 90:460–649
Thiriet P, Lobe MM, Gweha I, Gozal D (1991) Prevalence of the sickle cell trait in athletic West African population. Med Sci Sports Exerc 23:389–390
Thiriet P, Hesran JY, Wouassi D, Bitanga E, Gozal D, Louis FJ (1994) Sickle cell trait performance in a prolonged race at high altitude. Med Sci Sport Exerc 26:914–918
Tripette J, Hardy-dessources MD, Sara F et al (2007) Does repeated and heavy exercise impair blood rheology in carriers of sickle cell trait? Clin J Sport Med 17:465–470
Van Kirk R, Sandhaus LM, Hoyer JD (2005) The detection and diagnosis of hemoglobin A2’ by high-performance liquid chromatography. Am J Clin Pathol 123:657–661
Weight LM, Klein M, Noakes TD, Jacobs P (1992) “Sports anemia” a real or apparent phenomenon in endurance-trained athletes? Int J Sports Med 13:344–347
Zorai A, Hartevelt CL, Bakir A, Van Delft P, Falfoul A, Dellagi K, Abbes S, Giordano PC (2002) Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth. Hemoglobin 26:353–362
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The experiments comply with the current laws in the country in which they were performed.
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Communicated by Susan Ward.
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Touhami, I., Fattoum, S., Bibi, A. et al. The epidemiology of abnormal hemoglobins in Mediterranean high-level athletes. Eur J Appl Physiol 108, 1075–1081 (2010). https://doi.org/10.1007/s00421-009-1314-0
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DOI: https://doi.org/10.1007/s00421-009-1314-0