Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin electrophoresis. Silent mutations on β-globin gene have borderline or normal hematological indices that cannot be detected in premarital scree...

the restriction enzyme ava ii detects the base change of the intervening sequence ii (ivs ii) which is used as one of the markers of β-globin gene polymorphism. this study was conducted to determine the frequency of the ava ii site on the β-globin gene among normal people and patients with sickle cell syndrome (scs) in iran. dna fragments containing the ivs ii region of the β-globin gene from 3...

We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we ...

Methemoglobin (Hb-M) is a rare hemoglobinopathy in China. We hereby report on a family living in Yantai, East China, with congenital cyanosis due to Hb-M mutation. The proband, a 65-year-old female, presented 63% oxygen saturation. Both Hb-M concentration and arterial oxygen saturation remained unchanged, even following intravenous treatment with methylene blue. There was also no change in bloo...

Objectives. Check with hematological data that the diagnosis and clinical grade of β-thalassemia intermedia can be established when a triplication genes alpha (αααanti 3.7) heterozygous are coherent. Methods. Retrospective study in which 73 patients Caucasian origin participated, who simultaneously showed tripling or quadrupling α β-thalassemia. Screening for most frequent α-thalassemia mutatio...

BACKGROUND β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, a 290-bp β-globin gene deletion in the south of Iran. METHODS Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out according to th...

A patient with homozygous p thalassemia of Germadtalian descent was found to be doubly heterozygous for the common IVSI-110 G -+ A mutation of the p globin gene and for a novel C -+ T mutation of the proximal CACCC-box of the p globin gene promoter at position -87 relativeto the transcription start site (cap). Transcription analysis in an HeLa cell transfection assay indicated a 45% to 51% resi...

OBJECTIVES The clinical analysis of hemoglobin by ion exchange chromatography can result in ambiguities in identification of the nature of the globin chain present in patient samples. LC/ESI-MS provides rapid and precise determination of globin chain masses. DESIGN AND METHODS Hemolysate of hemoglobin Q-India and hemoglobin S/D/F have been analyzed using ESI-MS. Tandem-MS has been used to est...

Hemoglobin (Hb) G-Chinese [α30 (B11) Glu↷Gln], also known as Hb G-Honolulu, Hb G-Hongkong or Hb G-Singapore, was first identified in a Chinese woman in Singapore, and was subsequently observed in several Chinese families. This Hb variant results from a GAG↷CAG mutation at codon 30 of the α-globin gene. The aim of the present study was to identify the Hb G-Chinese mutation in three Cantonese ind...

In this study we have carried out aand -globin gene analysis and defined the fl-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the j9-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We ...