Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran

Autor:	Elham Davoudi-Dehaghani, Masoumeh Razipour, Sara Alimohammadi-Bidhendi, Maryam Eslami, Sirous Zeinali, Sarah Azadmehr
Rok vydání:	2021
Předmět:	Anemia Clinical Biochemistry Biology Iran DNA sequencing 03 medical and health sciences 0302 clinical medicine alpha-Thalassemia hemic and lymphatic diseases medicine Humans Genetics (clinical) Genetics Anemia Hypochromic Biochemistry (medical) Haplotype Hematology Iron Deficiencies medicine.disease Hypochromic microcytic anemia Blood Disorder Haplotypes 030220 oncology & carcinogenesis Mutation (genetic algorithm) Mutation 030215 immunology
Zdroj:	Hemoglobin. 45(1)
ISSN:	1532-432X
Popis:	α-Thalassemia (α-thal) is an inherited blood disorder with different clinical manifestations. Although genetic causes of anemia are identified routinely in the majority of α-thal cases, a pathogenic variant in a few cases remains undiagnosed. In this study, some reported regulatory mutations have been investigated in five unsolved α-thal carriers. α-Major regulatory element (α-MRE) haplotype analysis has also been performed in Iran for the first time. Four regions, including the
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af44c87e81393379051e0bd8b7ac7faf https://pubmed.ncbi.nlm.nih.gov/33775199 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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