Study of Sickle Cell Syndromes in the Population of the Region of Batna
Sickle cell anemia is a recessive genetic disease
caused by the presence in the red blood cell, of abnormal hemoglobin
called hemoglobin S. It results from the replacement in the beta chain
of the acid glutamic acid by valin at position 6. Topics may be
homozygous (SS) or heterozygous (AS) most often
asymptomatic. Other mutations result in compound heterozygous:
- Synthesis of hemoglobin C mutation in the sixth leucin codon
(heterozygous SC);
- ß-thalassemia (heterozygous S-ß thalassemia).
SS homozygous, heterozygous SC and S- ß -thalassemia are grouped
under the major sickle cell syndromes.
To make a laboratory diagnosis of hemoglobinopathies in a
portion of the population in region of Batna, our study was
conducted on 115 patients with suspected sickle cell anemia, all cases
have benefited from hematological tests as blood count (count RBC,
calculated erythrocyte indices, MCV and MCHC, measuring the
hemoglobin concentration) and a biochemical test in this case
electrophoresis CAPILLARYS HEMOGLOBIN (E).
The results showed:
27 cases of sickle cell anemia were found on 115 suspected cases,
73,03% homozygous sickle cell disease and 59,25% sickle cell trait.
Finally, the double heterozygous S/C, represent the incidence rate of
3, 70%.
[1] P. Basset, Y. Beuzard, M. C. Garel, and J. Rosa. " Isoelectric focusing
of human hemoglobin: its application to screening, to the characterization of 70 variants, and to the Study of modified fractions of
normal hemoglobin," Blood, , Vol. 51, pp. 971-82. 1978.
[2] M. H. Steinberg, "Management of sickle cell disease." N Engl J Med,
vol. 340, pp. 1021-1030. 1999.
[3] J. Bardakjian-Michau, , J. L. Dhondt, , R. Ducrooq, F. Galactéros, A. Guyard, , F. X. Huchet , A. Lahary, D. Lena-Russo, P. Maboudou, ML.
North, C. Prehu, AM. Soumm, M. Verschelde, and H. Wajcman, "Best practices study of hemoglobin," Ann. Bio. Clin, vol. 61 .pp 401-409.
2003.
[4] M. Vanbourdolle, " Biochemistry Hematology," pp. 6-1116 . 2007.
[5] E. Kafando, LBG. Savadogo, and J. Ayéroué, "Sickle cell syndromes in
major: an anonymous survey of the medical profession in Burkina Faso," Med. Too,vol. 68.pp. 241-246.2008.
[6] D. Tosteson, E. Carlsen ,and E. Dunham " The effects of sickling is
Lon transport," J Clin Invest, vol.31.pp. 406-411. 1952.
[7] THJ. Huisman, and JHP. Jonxis, "The Hemoglobinopathies: techniques
of identification," pp. 456 .1977.
[8] Joutovsky, J. Hadzi-Nesic, and MA Nardi ,"HPLC retention time as a
diagnostic tool for hemoglobin variants and hemoglobinopathies: a
study of 60 000 samples in a clinical diagnostic laboratories," Cli.
Chem,, vol. 50, 10 .pp. 1736-1747. 2004.
[9] F. Galacteros, "Thalassemia, sickle cell anemia and other
hemoglobinopathies,"Technical and Biology, vol.3.pp.174-178.1986.
[1] P. Basset, Y. Beuzard, M. C. Garel, and J. Rosa. " Isoelectric focusing
of human hemoglobin: its application to screening, to the characterization of 70 variants, and to the Study of modified fractions of
normal hemoglobin," Blood, , Vol. 51, pp. 971-82. 1978.
[2] M. H. Steinberg, "Management of sickle cell disease." N Engl J Med,
vol. 340, pp. 1021-1030. 1999.
[3] J. Bardakjian-Michau, , J. L. Dhondt, , R. Ducrooq, F. Galactéros, A. Guyard, , F. X. Huchet , A. Lahary, D. Lena-Russo, P. Maboudou, ML.
North, C. Prehu, AM. Soumm, M. Verschelde, and H. Wajcman, "Best practices study of hemoglobin," Ann. Bio. Clin, vol. 61 .pp 401-409.
2003.
[4] M. Vanbourdolle, " Biochemistry Hematology," pp. 6-1116 . 2007.
[5] E. Kafando, LBG. Savadogo, and J. Ayéroué, "Sickle cell syndromes in
major: an anonymous survey of the medical profession in Burkina Faso," Med. Too,vol. 68.pp. 241-246.2008.
[6] D. Tosteson, E. Carlsen ,and E. Dunham " The effects of sickling is
Lon transport," J Clin Invest, vol.31.pp. 406-411. 1952.
[7] THJ. Huisman, and JHP. Jonxis, "The Hemoglobinopathies: techniques
of identification," pp. 456 .1977.
[8] Joutovsky, J. Hadzi-Nesic, and MA Nardi ,"HPLC retention time as a
diagnostic tool for hemoglobin variants and hemoglobinopathies: a
study of 60 000 samples in a clinical diagnostic laboratories," Cli.
Chem,, vol. 50, 10 .pp. 1736-1747. 2004.
[9] F. Galacteros, "Thalassemia, sickle cell anemia and other
hemoglobinopathies,"Technical and Biology, vol.3.pp.174-178.1986.
@article{"International Journal of Biological, Life and Agricultural Sciences:61877", author = "K .Belhadi and H. Bousselsela and M. Yahia and A. Zidani and S. Benbia", title = "Study of Sickle Cell Syndromes in the Population of the Region of Batna", abstract = "Sickle cell anemia is a recessive genetic disease
caused by the presence in the red blood cell, of abnormal hemoglobin
called hemoglobin S. It results from the replacement in the beta chain
of the acid glutamic acid by valin at position 6. Topics may be
homozygous (SS) or heterozygous (AS) most often
asymptomatic. Other mutations result in compound heterozygous:
- Synthesis of hemoglobin C mutation in the sixth leucin codon
(heterozygous SC);
- ß-thalassemia (heterozygous S-ß thalassemia).
SS homozygous, heterozygous SC and S- ß -thalassemia are grouped
under the major sickle cell syndromes.
To make a laboratory diagnosis of hemoglobinopathies in a
portion of the population in region of Batna, our study was
conducted on 115 patients with suspected sickle cell anemia, all cases
have benefited from hematological tests as blood count (count RBC,
calculated erythrocyte indices, MCV and MCHC, measuring the
hemoglobin concentration) and a biochemical test in this case
electrophoresis CAPILLARYS HEMOGLOBIN (E).
The results showed:
27 cases of sickle cell anemia were found on 115 suspected cases,
73,03% homozygous sickle cell disease and 59,25% sickle cell trait.
Finally, the double heterozygous S/C, represent the incidence rate of
3, 70%.", keywords = "Hemoglobin, sickle cell syndromes, laboratory diagnosis", volume = "5", number = "12", pages = "930-3", }