Compound heterozygosity of Hb DIran(?22Glu?Gln) and ?0-thalassemia (619�bp-deletion) in India
| Autor: | Pratiksha Dedhia, Meenal G. Agrawal, Kanchan D. Jeswani, B.R. Das, Sucheta Dayanand, Amar Dasgupta, Aparna A. Bhanushali |
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| Rok vydání: | 2007 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities Mutation Red Cell Thalassemia Hematology General Medicine Biology medicine.disease_cause medicine.disease Compound heterozygosity Molecular biology law.invention Hemoglobinopathy law hemic and lymphatic diseases medicine Beta (finance) Gene Polymerase chain reaction |
| Zdroj: | European Journal of Haematology. 79:248-250 |
| ISSN: | 1600-0609 0902-4441 |
| Popis: | The present report describes the hematologic and molecular study of the second case of Hb D(Iran) associated with beta(0)-thalassemia (619 bp-deletion) found in India and the first case in which the mutations have been identified at molecular level. The patient showed hypochromic, microcytic red cell picture with reduced red cell indices. The characterization of the hemoglobinopathy was made by electrophoretic and chromatographic techniques and confirmed by sequencing of the beta-globin gene. Both the propositus and her father were found to be carriers of the gene for beta(0)-thalassemia owing to the 619 bp-deletion mutation as seen by the polymerase chain reaction (PCR). Single base substitution GAA > CAA (indicative of Hb D(Iran)) in the heterozygous form was seen in the propositus as well as the mother by sequencing. |
| Databáze: | OpenAIRE |
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