Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation
A three-year-old female with compound heterozygosity for Hb Knossos and IVS-I-1 mutation is presented. On physical examination she had no abnormality except for pallor. Hb was 6.9 g/dl, MCV 61 fl, Hb A2 2% and Hb F 38.5%. Acrylamidegel electrophoresis at a pH of 6 revealed the presence of Hb...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
1997-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3395 |
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| _version_ | 1849772727828742144 |
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| author | A Gürgey H Balkan G Irken F Gümrük S Altay A Kalaycioğlu C Oner R Oner |
| author_facet | A Gürgey H Balkan G Irken F Gümrük S Altay A Kalaycioğlu C Oner R Oner |
| author_sort | A Gürgey |
| collection | DOAJ |
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A three-year-old female with compound heterozygosity for Hb Knossos and IVS-I-1 mutation is presented. On physical examination she had no abnormality except for pallor. Hb was 6.9 g/dl, MCV 61 fl, Hb A2 2% and Hb F 38.5%. Acrylamidegel electrophoresis at a pH of 6 revealed the presence of Hb Knossos in the child and her father. DNA studies revealed that the child was compound heterozygous for Hb Knossos and the IVS I-1 mutation. When the clinical expression of this combination in a previously reported patient with Hb Knossos/FSC8 mutation is compared, it is shown that the newly presented patient has a more severe condition, indicating that the mutations in the trans of Hb Knossos may play a role in the phenotypical expression of the disease.
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| format | Article |
| id | doaj-art-206280ac4d0b4fda88843852d5ceff12 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 1997-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-206280ac4d0b4fda88843852d5ceff122025-08-20T03:02:15ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211997-04-01392Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutationA Gürgey0H BalkanG IrkenF GümrükS AltayA KalaycioğluC OnerR OnerDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara. A three-year-old female with compound heterozygosity for Hb Knossos and IVS-I-1 mutation is presented. On physical examination she had no abnormality except for pallor. Hb was 6.9 g/dl, MCV 61 fl, Hb A2 2% and Hb F 38.5%. Acrylamidegel electrophoresis at a pH of 6 revealed the presence of Hb Knossos in the child and her father. DNA studies revealed that the child was compound heterozygous for Hb Knossos and the IVS I-1 mutation. When the clinical expression of this combination in a previously reported patient with Hb Knossos/FSC8 mutation is compared, it is shown that the newly presented patient has a more severe condition, indicating that the mutations in the trans of Hb Knossos may play a role in the phenotypical expression of the disease. https://turkjpediatr.org/article/view/3395 |
| spellingShingle | A Gürgey H Balkan G Irken F Gümrük S Altay A Kalaycioğlu C Oner R Oner Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation The Turkish Journal of Pediatrics |
| title | Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation |
| title_full | Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation |
| title_fullStr | Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation |
| title_full_unstemmed | Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation |
| title_short | Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation |
| title_sort | compound heterozygosity for hemoglobin knossos alpha 2 beta 2 27 b9 ala ser and ivs i 1 mutation |
| url | https://turkjpediatr.org/article/view/3395 |
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