Elucidating the spectrum of alpha thalassemia mutations in iran

Intellectual disability (ID) is a neuro-developmental disorder which causes considerable socio-economic problems.

Some ID individuals are also affected by ataxia, and the condition includes different mutations affecting several genes.....

Several studies demonstrated a nonrandom linkage of particular RFLP haplotypes with specific β-thalassemia mutations.

Linkage analysis using β-globin haplotypes is a valuable tool for indirect mutation detection.

The present study was conducted to determine the prevalence of hemoglobinopathies in western Iranian patients.

Hemoglobinopathies include structural variants of hemoglobin (Hb S, Hb C, Hb E,…) and thalassaemias which are inherited defects in the globin chains synthesis.

Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.....

The identification of the causative gene defect for this syndrome will provide new insights into the development of the brain and the eye...

The present study aimed to determine the prevalence of microcytosis among neonates who born in Tehran, Iran.METHODS: Cord blood samples were collected from 1001 newborns after birth in labor room and their red blood cell parameters were investigated.RESULTS: MCV was 114.2 fl (95% CI: 113.5-114.9) and twenty three neonates (2.3%) had MCV less than 94 f L that classified as microcytosis and 4 (0.40%) had both low MCH and MCV.Cellulose acetate gel electrophoresis was performed for all patients and abnormal bands were identified by citrate agar gel electrophoresis and PCR based methods.Iron deficiency anemia (IDA) was present in 156 (45.3%) individuals.

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