DETECTION OF HEMOGLOBINOPATHIES IN HYPOCHROMIC, MICROCYTIC AND SICKELED CELL BLOOD FILMS BY HEMOGLOBIN ELECTROPHORESIS
Abstractbackground: The hemoglobin molecule (Hb) is protein carries a negative charge that render it attracts to anode pole causing separate it and moving toward the positive pole of electric current, affected by the movement of this type of charge (negative or positive) and strength as well as the molecular weight of hemoglobin type.
Until these days, there are more than 300 known genetic mutation may occur in hemoglobin molecule. Some of them with clear clinical implications that threat health, especially for heterozygous states. Objective: To detect some of hemoglobinopathies such as β- thalassemia and sickle cell anemia cases by hemoglobin electrophoresis technique in population sample identified from Nassiriyah governorate in Iraq. Methods: Eighty samples of blood were drawn from subjects who suspected to have hemoglobinopathies and examined by Hb electrophoresis technique in College of medicine – Thiqar University. The diagnosis of hemoglobinopathies was made on the basis of hemoglobin electrophoresis, sickling tests, and family studies. Persons, who have low level of hemoglobin concentrations, accompanied with elevation of abnormal hemoglobin percentage, were involved in this study. Fifty eight cases of hemoglobinopathies were diagnosed, 30 of 80 (37.5%) as β- thalassemia, and 28 of 80(35%) as sickle cell disease carriers. Results: Iraqi β-thalassemia and sickle cell anemia carriers were identified in hematology sections in Nasseriah governorate hospitals. Recent hemoglobin protein study revealed the presence of different common defected hemoglobin types associated with these disorders, distributed as the following: 15 subjects (18.7 %) were (HbAS) and 8 (10%) were (HbFS( sickle cell minor carriers, 7(8.8%) were (HbS) sickle cell disease, while thalassemic major were: 9 (11.3%) with (HbF) , and 12 (15%) with (HbAF) type. Thalassemia minor hemoglobin (HbA2) type represents 7 (8.8%). However, there are also 22 subjects were have normal Hb electrophoresis. Conclusion: The investigations described below manifested a rapid and simple method which allows quantitative analysis of the proportions of the various hemoglobins forms present. Hemoglobin gel electrophoresis is a simple and convenient technique for the study of the hereditary hemoglobimiopathies in alkaline pH (4.8 to 6.8). We suggest extending its usage to the detection of other hemoglobin disorders.
Weatherall Di, Clegg JB: The Thalassaemia Syndromes. Boston, Blackwell, 1981.
De Sanctis V, Pinamonti A, Di Palma A, Sprocati M, Atti G, Gamberini MR. Growth and development in thalassaemia major patients with severe bone lesions due to desferrioxamine. Eur J Pediatr 1996; 155: 368-372.
Soliman AT, elZalabany MM, Mazloum Y, Bedair SM, Ragab MS, Rogol AD, et al. Spontaneous and provoked growth hormone (GH) secretion and insulin-like growth factor I (IGFI) concentration in patients with beta-thalassaemia and delayed growth. J Trop Pediatr 1999; 45: 327-337.
Labropoulou-Karatza C, Goritsas C, Fragopanagou H, Repandi M, Matsouka P, Alexandrides T. High prevalence of diabetes mellitus among adult beta-thalassaemic patients with chronic hepatitis C. Eur J Gasteroenterol Hepatol 1999; 11: 1033-1036.
Monge L, Pinach S, Caramellino L, Bertero MT, Dall’omo A, Carta Q. The possible role of autoimmunity in the pathogenesis of diabetes in beta-thalassaemia major. Diabetes Metab 2001; 27: 149-154.
Gulati R, Bhatia V, Agarwal SS. Early onset of endocrine abnormalities in beta-thalassemia major in a developing country. J Pediatr Endocrinol Metab 2000; 13: 651-656.
Swasan S, Sarab H, Ali T. Iron overload and endocrine pattern in children with thalassemia syndromes. Iraqi J Medical Sciences 2001; 1:159-168.
Al-Jumaili A, Khider S. Prevalence of hypocalcaemia among thalassemic patients and sicklers in thalassemic center in Ibn Albalady hospital. Proceeding of the 1st Scientific Conference on thalassemia and hemoglobinopathies in Iraq. Mosul: University of Mosul Press; 2000. p. 28-30.
Cario H, Stahnke K, Kohne E. Beta-thalassemia in Germany. Results of cooperative beta- thalassemia study. Klin Pediatr 1999; 211: 431-437.
Ambu R, Crisponi G, Sciot R, Van Eyken P, Parodo G, Iannelli S, et al. Uneven hepatic iron and phosphorus distribution in beta-thalassemia. J Hepatol 1995; 23: 544-549.
Karvounis HI, Zaglavara TA, Parharidis GE, Nouskas IG, Hassapopoulou EP, Gemitzis KD, et al. An angiotensinconverting enzyme inhibitor improves left ventricular systolic and diastolic function in transfusion-dependent patients with beta-thalassemia major. Am Heart J 2001; 141: 281.
Hahalis G, Manolis AS, Getasimidou I, Ioanna G, Alexopoulos D, Sitafidis G, Kourakli A, et al. Right ventricular diastolic function in [beta]-thalassemia major: Echocardiographic and clinical correlates. AAm Heart J 2001; 141: 428-434.
D. J. Weatherall and J. B. Clegg, The Thalassaemia Syndromes, Blackwell Scientific Publications, Oxford, UK, 4th edition, 2001.
H. I. Yahya, K. J. Khalel, N. A. S. Al-Allawi, and F. Helmi, “Thalassaemia genes in Baghdad,
Iraq,” Eastern Mediterranean Health Journal 1996, 2 (2), pp. 315–319.
M. K. Hassan, J. Y. Taha, L. M. Al-Naama, N. M. Widad, and S. N. Jasim, “Frequency of
Haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Basra,” Eastern
Mediterranean Health Journal, 2003, 9 (1-2), pp. 45–54.
Nasir A. S. Al-Allawi,1 Kawa M. A. Hassan,2 Anwar K. Sheikha,2 Farida, F. Nerweiy,3 Raji S. Dawood,4 and Jaladet Jubrael, -Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq, Molecular Biology International, 2010,Volume (2010), Article ID 479282, 4 pages.
AE Kulozik, BC Kar, GR Serjeant, BE Serjeant and DJ Weatherall. The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene, Blood, 1988.71: 467-472.
Zahed I, the spectrum of β thalassemia mutations in the arab populations. J.Biomed. Biotechnol., 2001 1(3): 129-132.
Karl Singer, Ben Fisher. Studies on Abnormal Hemoglobins VI. Electrophoretic Demonstration of Type S (Sickle Cell) Hemoglobin in Erythrocytes Incapable of Showing the Sickle Cell Phenomenon, Blood 1953. 8: 270-275.
Russell E. Ware. How I use hydroxyurea to treat young patients with sickle cell anemia, Blood. 2010. 115: 5300-5311.
Gavins F, Yilmaz G, Granger DN. The evolving paradigm for blood cell-endothelial cell interactions in the cerebral microcirculation. Microcirculation; 2007. 14 (7):667-681.
Haig H. Kazazian, Jr, and Corinne 0. Boehm: Molecular Basis and Prenatal Diagnosis of β-Thalassemia Blood, 1988. 72(4).
Buhn HF, McDonald MS. Electrostatic interactions in the assembly of hemoglobin. Nature. 1983, 306:498.
Julie Makani, Stephan Menzel, Siana Nkya, Sharon E. Cox, Emma Drasar, Deogratius Soka, Albert N. Komba, Josephine Mgaya, Helen Rooks, Nisha Vasavda, Gregory Fegan, Charles R. Newton, Martin Farrall, and Swee Lay Thein . Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. Blood, 2011, 117(4), pp. 1390-1392.
Martin H. Steinberg and Stephen H. Embury, Thalassemia in Blacks: Genetic and Clinical Aspects and Interactions With the Sickle Hemoglobin Gene, Blood , 1986.68(5) p: 985.
Arthur W. Nienhuis, Nicholas P. Anagnou, and Timothy J. Ley. Advances in Thalassemia Research. Blood, 1984, 63(4): pp. 738-758.
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