ABSTRACT
Thalassemia is one of the most common hemoglobin disorders, in which alpha-thalassemia appears in affected individuals with hypochromic microcytic anemia. Because of the absence of the mutation detection capabilities in the most health care centers in Iran, the most patients with alpha-thalassemia misdiagnosed as beta silent carriers. Until now, no inclusive research has been done to expose the patterns of it in Khuzestan. Therefore, in the present study we decided to clarify the prevalence of the mutations in alpha -Thalassemia in Khuzestan. One hundred and fourteen patients from Khuzestan were selected among the patients, referred to Kariminejad and Najmabadi Pathology and Genetics Center, between 1998-2006, showing the signs of hypochromic microcytic anemia and normal HbA2 levels. First of all, they were all tested for 3 common alpha -thalassemia mutations,-3.7, -4.2, --MED, by gap-PCR amplification method. Alpha-Globin Strip Assay of the nine mutation panel and DNA sequencing was used to determine other major contributes in Khuzestan. We could detect alpha -thalassemia mutations for 84.2% of tested individuals. 79.2% had cis-type alpha -thalassemia, 13.5% trans-type and 7.3% was a carrier for two cis-type mutations. In total, 72.9% were silent carrier, 19.8% alpha -thalassemia trait, and 7.3% had alpha -thalassemia major. As an early report 27.4% of the tested alleles were found to be mutated. The - alpha[3.7] single gene deletion was the most frequent alpha -globin mutation in our population representing 55.2% of alpha -thalassemia mutations in Khuzestan. Twelve other mutations [--MED, alpha[PA2[GAA]], - alpha[4.2], alpha[cd19], alpha[-5nt], alpha[cd14], alpha[PA1[AAG]], alpha[CS], anti 3.7 triplication, alpha[St], alpha[cd21], alpha[cd59]. We strongly recommend screening for the identified ten common mutations to improve the molecular diagnosis of anemia