Thalassaemia and Haemoglobin Disorders In the Khuzestan Province of Iran
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, cilt.2, sa.3, ss.820-826, 2008 (ESCI)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 2 Sayı: 3
- Basım Tarihi: 2008
- Dergi Adı: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
- Sayfa Sayıları: ss.820-826
- Kocaeli Üniversitesi Adresli: Hayır
Özet
Background and Aim: : In prevalent regions, 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 alpha and beta thalassaemias. 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 a step-by-step diagnostic workup on 800 patients of haemoglobinopathies who were referred to the Research center of Thalassemia and Haemoglobinopathies at the Shafa Hospital of Ahwaz, Joundishapour University of Medical Sciences, respectively. We detected 173 patients with Iron Deficiency Anaemia and 627 individuals as Thalassaemic patients by use of different indices. We detected 75 %(472/627) of the beta-thalassaemia mutations by using the amplification refractory mutation system (ARMS) technique, 19 %(130/627) of the athalassaemia mutations by using the Gap-PCR technique, and 6 %(25/627) of the Hb variants by the Hb electrophoresis technique successfully. Conclusion: Almost all haemoglobinopathies can be detected with the current PCRbased assays, with the exception of a few rare deletions. The knowledge of a and beta-gene numbers in the a and beta-thalassaemia traits of any population is necessary, as it modifies the phenotype of thalassaemia by altering the ratio of the a and beta -chains of haemoglobin.