A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene.

In this study, a new alpha globin gene mutation on the α2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern Iran of Lor ethnicity.

Identification of IVS-I (-1) (G > C) or Hb Monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in south of Iran.

We described the first report of IVS-I (-1), codon 30 (G > C) or Hb Monroe in five individuals from four unrelated families in Khuzestan Province. Polymerase chain reaction (PCR) followed by sequencing of the beta-globin gene confirmed the presence of Hb Monroe in the heterozygous form which causes beta-thalassemia due to missplicing in the course of mRNA processing. This mutation has been described in individuals originated from Arabic and Behbahani origins, Ahvaz City, south of Iran.

Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2); HBA2: c.251T>G],a new hemoglobin variant of the α2-globin gene.

We report a novel mutation on the α2-globin gene, codon 83 (T>G), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that we named Hb Ahvaz. This mutation was detected by cellulose acetate electrophoresis and characterized by molecular studies. Hb Ahvaz does not seem to be responsible for hematological abnormalities in the carriers, but with α(0)-thalassemia (α(0)-thal) defects, might induce severe clinical symptoms.

Co-inheritance of alpha-and beta-thalassemia in Khuzestan Province, Iran.

Background And Aims: beta-thalassemia is one of the most frequent hemoglobinopathies and single gene disorders in Iran. About 13 beta globin mutations encompass 70-90% of mutations spectrum in Iran, the rest are rare or unknown. People who do not produce enough alpha globin protein chains have alpha-thalassemia.

Human cystic echinococcosis in nomads of south-west Islamic Republic of Iran.

We investigated the prevalence of human CE among nomadic communities in 4 areas of Khuzestan province: Behbahan, Shoush, Masjed Soleiman and Izeh. Blood samples from 3446 individuals from 700 randomly selected families were examined for detection of antibody against Echinococcus granuIosus. Family members were interviewed to assess possible risk factors for infection such as age, sex, dog ownership.