Thalassemia and Hemoglobin Disorders In Khuzestan Province of Iran
Fakher Rahim, Physiology Research Center, Ahwaz Jondishapur University of Medical Sciences, Ahwaz, Iran. firstname.lastname@example.orgE-Mail:Tel: +986113362411
Background and Aim:In prevalent regions, the thalassaemias often coexist with a variety of structural Hb variants giving rise to complex genotypes and an extremely wide spectrum of clinical and haematological phenotypes. Haematological and biochemical investigations, and family studies provide essential clues to the different interactions and are fundamental to DNA diagnostics of the Hb disorders.
Material and Methods:A careful three tier approach involving: (1) Full blood count (2) Special haematological tests, followed by (3) DNA mutation analysis, provides the most effective way in which primary gene mutations as well as gene-gene interactions that can influence the overall phenotype can be detected. In Iran, there are many different forms of α and β thalassemias. Increasingly, different Hb Variants are being detected, and their effects per se, or in combination with the thalassaemias, provide additional diagnostic challenges.
Result: We did step-by-step diagnostic workup in 800 patients of hemoglobinopathies who were referred to Research center of Thalassemia and Hemoglobinopathies in Shafa Hospital of Ahwaz Joundishapour University of Medical Sciences, respectively. We detected 173 patients as Iron Deficiency Anemia and 627 individuals as Thalassemic patients by use of different indices. We detected 75 %( 472/627) of the β-thalassemia mutations by using amplification refractory mutation system (ARMS) technique and 19 %( 130/627) of the α-thalassemia mutations by using Gap-PCR technique and 6 %( 25/627) as Hb variants by Hb electrophoresis technique successfully.
Conclusion:Almost all haemoglobinopathies can be detected with the current PCR-based assays with the exception of a few rare deletions. The knowledge of α and ÃŸ-gene numbers in α and ÃŸ-thalassemia traits of any population is necessary, as it modifies the phenotype of thalassemia by altering the ratio of α and ÃŸ -chains of hemoglobin.