Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children
| Autor: | Ingrid Parra Salinas, Silvia Izquierdo Álvarez, Carmen Rodriguez-Vigil Iturrate, Flor Yus Cebrian, María del Valle Recasens Flores |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Roma Microcytic anemia Blood Donors Case Report medicine.disease_cause 0302 clinical medicine Gene Duplication hemic and lymphatic diseases Gene duplication Iron overload Medicine Thalassemia minor Bone Marrow Transplantation Medicine(all) Genetics Mutation medicine.diagnostic_test Beta thalassemia General Medicine Pedigree Beta thalassemia major Multigene Family 030220 oncology & carcinogenesis Female Heterozygote congenital hereditary and neonatal diseases and abnormalities Polymorphism Single Nucleotide General Biochemistry Genetics and Molecular Biology 03 medical and health sciences alpha-Globins Humans Genetic Predisposition to Disease Genetic Testing Alpha-globin gene triplication Alpha globulin Gene Genetic testing Family Health Portugal Biochemistry Genetics and Molecular Biology(all) business.industry beta-Thalassemia Infant Heterozygote advantage medicine.disease Splenomegaly Immunology business 030215 immunology |
| Zdroj: | BMC Research Notes |
| ISSN: | 1756-0500 |
| DOI: | 10.1186/s13104-016-2027-1 |
| Popis: | Background The simultaneous presence of a heterozygous β-thalassemia with α-gene triplication may cause anything from a thalassemia trait to thalassemia intermedia of mild to moderate severity. Case presentation An 8-month-old ethnic Gypsy male infant with failure to thrive from birth, mild jaundice and splenomegaly. Clinical signs were compatible with severe microcytic anemia requiring bi-monthly blood transfusions. The β-thalassemia gene analysis found homozygous mutation IVS-I-110 (G>A) (c.93-21G>A) in intron 1 of the hemoglobin beta globin gene and a non-pathogenic sequence variant (single nucleotide polimorfism (SNP) Rs1609812). In addition, the patient had α gene triplication (αααanti 3.7/αα) caused by double heterozygosity for a 3.7 kb fragment that contained only the hemoglobin alpha globin gene-2 gene. This finding led to screening and follow up in first-degree relatives, twin brothers and a sister and parents to provide them with appropriate genetic counseling. Nowadays, new horizons could open a new therapeutic management until definitive cure of these diseases through gene therapy or mutation-specific genome editing. Conclusions Genetic testing can provide an early diagnosis and facilitates the search for a suitable donor for transplantation. |
| Databáze: | OpenAIRE |
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