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Journal of Tropical Pediatrics Advance Access published online on April 14, 2005
Journal of Tropical Pediatrics, doi:10.1093/tropej/fmh101
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© Oxford University Press 2005; all rights reserved

Original Papers

Molecular Analysis of Iranian Families with Sickle Cell Disease

Maryam Ayatollahi 1*, Maryam Zakerinia 2, and Mansour Haghshenas 3

1 Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
2 Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
3 Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

* To whom correspondence should be addressed.
Maryam Ayatollahi, E-mail: ayatmb{at}sums.ac.ir


  Abstract

Sickle hemoglobin is a mutant hemoglobin in which valine has been substituted for the glutamic acid normally at the sixth amino acid of the {beta}-globin chain. Detection of the single base pair mutation at codon 6 of the {beta}-globin gene is important for the prenatal diagnosis of sickle cell anemia and sickle cell disease. Application of the polymerase chain reaction technology to detect sickle cell patients and heterozygous carriers in a group of patients suspected for sickle cell disease was carried out. The sample was composed of 52 normal individuals and 52 unrelated outpatients who were attending the Hematology Research Center. All patients were interviewed. Results of their medical histories, physical examination, and the hematological analysis were recorded. The blood samples were collected in EDTA and genomic DNA was extracted from leukocytes. An amplified 110 base pair fragment of the {beta}-globin gene containing codon 6, was digested with the restriction enzyme MS II, and electerophoresed in 3 per cent agarose. We have established the technical condition for detection of sickle cell disease using a PCR assay. Fifteen patients having haemoglobin (Hb SS) and 37 patients in the heterozygous state (Hb AS) were identified. We confirm that the normal controls have the Hb AA genotype. The standardization of a highly sensitive and specific diagnostic test for sickle cell disease permitted us to identify the normal controls, the homozygotes and heterozygotes. This amplification method is rapid, sensitive and simple, and also has application research that is important for the prenatal diagnosis of sickle cell disease.


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