2006, Number 2
<< Back Next >>
Rev Invest Clin 2006; 58 (2)
Hematological and clinical profile in sickle cell or thalassemic patients
Vilachá D, Salazar R
Language: Spanish
References: 30
Page: 94-100
PDF size: 72.85 Kb.
ABSTRACT
Clinical and hematological characteristics of 14 patients with sickle cell anemia; one heterozygous AS, and 7, with diagnostic of microcytic hypochromic anemia were analyzed. Hemoglobin phenotypes were identified by electrophoresis, fetal hemoglobin was quantificated for alkaline denaturation and the HbA2 for ionic exchange chromatography; -↑
3,7 -thalassemia was detected by mutation identification using polymerase chain reaction (PCR). SS phenotype was confirmed in 10 patients, two were SSF↑, one was SSF↑A
2↑, and one was ASF↑ (HbF = 2%). The patient diagnosed as AS was SSF↑ (HbF = 21%). AD-patients presented a moderate clinical course of the illness. Five microcytic hypochromic anemia patients were HbAA, one was HbAAA
2↑ and another HbAAF↑; those patients present a high hematological and clinical variation. β-thalassemia was 19%. -α
3,7 -thalassemia was not detected. Infection was most frequent clinical manifestation (respiratory tract infection and intestinal parasitism). These results shows that -α
3,7 -thalassemia are not modulator genetic factors of clinical and hematological manifestations of patients with microcytic hypochromic anemia and sickle cell anemia. We suggest that environmental factors such as respiratory tract infection and intestinal parasitism may be affect the course of illness.
REFERENCES
Colombo B, Guerchicoff E, Martínez-Antuña G. Bases moleculares de las talasemias. Cuba: Editorial Pueblo y Educación; 1993, p. 267.
Arends A, Álvarez M, Velásquez D, Bravo M, Salazar R, Guevara J, Castillo O. Determination of b-globin gene cluster haplotypes and prevalence of a-thalassemia in sickle cell patients in Venezuela. Am J Haematol 2000; 64: 87-90.
El-Hazmi M, Al-Swailem A, Wasrsy A. Case studies on haemoglobin S heterozigotes with severe clinical manifestations. J Trop Pediatr 1990; 36: 223-9.
Nagel RL, Steinberg MH. Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia. Pediatr Pathol Mol Med 2001; 20(2): 123-36.
Serjeant G. The geography of sickle cell disease: opportunities for understanding its diversity. Ann Saudi Med 1994; 14(3): 1-10.
Salazar R, Bejarano Y, González M, Arends A. Estratificación socioeconómica, parámetros hematológicos y variantes hemoglobínicas en escolares de tres poblaciones del Estado Sucre. Saber 2002; 14(1): 55-9.
Lehmann H, Hunstman R. Amsterdam. North-Holland. Men’s haemoglobin; 1974, p. 567.
Robinson AR, Robson M, Harinson A, Zuelza W. A new technique for differentiation of haemoglobin. J Lab Clin Med 1957; 50: 745.
Betke K, Martin H, Schilicht I. Estimation small percentages of foetal haemoglobin. Nature 1959; 184: 1877-8.
Bernini L. Rapid determination of hemoglobin A2 by DEAEcellulose chromatography. Biochem Genet 1969; 2: 305-8.
Sambrook J, Fritsch E, Maniatis T. Molecular cloning. 2nd Ed. NY, USA: Cold Spring Harbor Laboratory; 1989.
Jeampierre M. A rapid method for the purification of DNA from blood. Nucl Acid R 1987; 15(22): 9611.
Baysal E, Huisman T. Detection of common deletional a-thalassemia- 2 determinants by PCR. Am J Hematol 1994; 46: 208-13.
Svarch E, Nordet I, Machín S, Fernández L, Muñiz A, Wade M. La drepanocitosis en los cinco primeros años de vida. Sangre 1996; 41(1): 43-6.
Serjeant G, Serjeant B, Stephens R, Higgs D, Beckford M, Cook J, Thomas P. Determinants of haemoglobin level in steady- state homozygous sickle cell disease. Br J Haematol 1996; 92: 143-9.
Marouf R, Gupta R, Haider MZ, Al-Wazzan H, Adekile AD. Avascular necrosis of the femoral head in adult Kuwaiti sickle cell disease patients. Acta Haematol 2003; 110(1): 11-5.
Méndez-Castellano H, Bosh M,López BM. Proyecto Venezuela, Fundación para el desarrollo y crecimiento de la población venezolana, Fundacredesa. 1993.
Landaeta de Jiménez M, Fossi M, Cipriano M, del Busto K, García K, Escalona J, Méndez-Hernández H. El hambre y la salud integral. An Venez Nutr 2003; 16(2): 150-6.
Macías-Tomey C, Jiménez-Landaeta M, García MN, Hevia D, Layrisse M, Méndez-Castellano H. Crecimiento físico y estado nutricional antropométrico de hierro y vitamina A en escolares de Venezuela. 2004: julio 16, 2005.
Smith LL, Thier S. Fisiopatología: principios biológicos de la enfermedad. 2nd Ed. Argentina: Edit. Med Panam; 1988, p. 1236.
Ramos L, Salazar R. Infestación parasitaria en niños de Cariaco, Estado Sucre, Venezuela y su relación con las condiciones socioeconómicas. Kasmera 1997; 25(3): 175-89.
Guilarte Del V, Jiménez D. Factores socioeconómicos y culturales que influyen sobre las parasitosis intestinales en escolares de Chacopata y Campoma. Saber 2002; 2(1): 138-43.
García T, Nordet I, Machín S, González A, Muñiz A, Martínez G, Wade M, Svarch E. Aportes al estudio de la drepanocitosis. Análisis clínico y hematológico en los primeros 5 años de la vida. Rev Cub Hematol Inmunol Hemoter 1999; 15(2): 96-104.
Espinosa E, Svarch E, Martínez G, Hernández P. La anemia drepanocítica en Cuba. Experiencia de 30 años. Rev Cub Hematol Inmunol Hemoter 1997; 12(2).
Schiliro G, Samperi P, Consalvo C, Gangarossa S, Testa R, Miraglia V, Lo Nigro L. Clinical, hematological, and molecular features in Sicilians with sickle cell disease. Hemoglobin 1992; 16(6): 469-80.
Adekile A, Hayder M. Morbidity, bs haplotype and a-globin gene patterns among sickle cell anemia patients in Kuwait. Acta Haematol 1996; 96: 150-4.
Olantunji P, Davies S. The predictive values of white cell count in assessing clinical severity of sickle cell anaemia in Afro-Caribbeans patients. Afr J Med Sci 2000; 29(1): 27-30.
Bravo M, Salazar R, Arends A, Álvarez M, Velázquez D, Guevara J, Castillo O. Detección de btalasemia mediante la técnica de Amplificación Refractaria de Sistemas de Mutaciones (ARMS-PCR). Inv Clin 1999; 40(3): 203-13.
Chang YC, Smith KD, Moore RD, Searjent GR, Dover GJ. An analysis of fetal hemoglobin variatin in sickle cell desease: The relative contributions of X-linked factor, â globin haplotype, á globin gen number, gender and age. Blood 1995; 85: 1111-7.
Salazar-Lugo R. La hemoglobina S en la población venezolana. Inv Clin 2004; 45(2): 109-92.