Coinheritance of Sicilian (δβ)0-Thalassemia and Two Rare Hemoglobin Variants: A Complex Case of Hemoglobinopathy
| Autor: | Reza Youssefi Kamangar, Maryam Pilehchian Langroudi, Mandana Azizi, Ali Banihashemi, Hajar Eftekhari, Haleh Akhavan-Niaki |
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| Rok vydání: | 2017 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities business.industry Microcytosis Thalassemia Clinical Biochemistry Hemoglobin variants Case Report Context (language use) medicine.disease Compound heterozygosity Loss of heterozygosity 03 medical and health sciences 0302 clinical medicine Hemoglobinopathy hemic and lymphatic diseases 030220 oncology & carcinogenesis Medicine Hemoglobin business 030215 immunology |
| Zdroj: | Indian Journal of Clinical Biochemistry. 33:231-234 |
| ISSN: | 0974-0422 0970-1915 |
| Popis: | α-Thalassemia (α-thal) is considered as the most common inherited hemoglobin disorder worldwide. The present study describes the first observation of a combination of rare α-chain variants, and β-globin gene cluster deletion. A 21-year-old woman with thalassemia trait, marked microcytosis, mild anemia, and normal range of Hb F was referred to Amirkola genetic center in the North of Iran for routine molecular test of thalassemia in the context of carrier detection and prevention of thalassemia major birth. Nucleotide sequencing revealed a novel compound heterozygosity status for two non-deletional mutations on HBA2, Hb O Indonesia (α116(GH4)Glu → Lys), and Hb Matsue–Oki (α75 (EF4) Asp → Asn), together with heterozygosity for the sicilian (δβ)(0)-thal mutation. This finding highlights the necessity of deep molecular investigation of thalassemia in regions where thalassemia is abundant, and present highly heterogeneous population. |
| Databáze: | OpenAIRE |
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