Elucidating the spectrum of alpha-thalassemia mutations in Iran. 2007

Valeh Hadavi, and Amir Hossein Taromchi, and Mahdi Malekpour, and Behjat Gholami, and Hai-Yang Law, and Navid Almadani, and Fariba Afroozan, and Farhad Sahebjam, and Parisa Pajouh, and Roxana Kariminejad, and Mohammad Hassan Kariminejad, and Azita Azarkeivan, and Maryam Jafroodi, and Ahmad Tamaddoni, and Helene Puehringer, and Christian Oberkanins, and Hossein Najmabadi
Kariminejad-Najmabadi Pathology & Genetics Center, 14665/154, Tehran, Iran.

Alpha thalassemia (alpha-thal) is one of the most common hemoglobin (Hb) disorders in the world. Alpha-globin genes are located on chromosome 16. The majority of alpha-thal mutations are deletions but point mutations are found as well. Since the Iranian population is a mixture of different ethnic groups, frequency and distribution of alpha-globin mutations in various regions of the country need to be clarified. These findings can contribute to a wider understanding of this disorder.

UI MeSH Term Description Entries
D007492 Iran A country bordering the Gulf of Oman, the Persian Gulf, and the Caspian Sea, between Iraq and Pakistan. The capital is Tehran. Islamic Republic of Iran
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017085 alpha-Thalassemia A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. Hemoglobin H Disease,Thalassemia-alpha,A-Thalassemia,Alpha Thalassemia,Disease, Hemoglobin H,Thalassemia alpha,Thalassemia, Alpha,alpha-Thalassemias
D017720 Molecular Epidemiology The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples. Epidemiology, Molecular,Genetic Epidemiology,Epidemiologies, Genetic,Epidemiologies, Molecular,Epidemiology, Genetic,Genetic Epidemiologies,Molecular Epidemiologies

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