Homozygous Hemoglobin Abruzzo in a North American Child
| Autor: | Kenneth C. Swanson, Lakshmi Venkateswaran, James D. Hoyer |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Hemoglobins Abnormal Increased oxygen affinity Polycythemia Hemoglobin Abruzzo Loss of heterozygosity Consanguinity Humans Medicine Child Genetics business.industry Homozygote Infant Hemoglobin variants Hematology Pedigree Oxygen Oncology North America Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Female business Consanguineous Marriage |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 27:618-620 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/01.mph.0000188114.50200.b3 |
| Popis: | Summary: Hemoglobin Abruzzo is a stable hemoglobin variant with increased oxygen affinity, clinically causing compensatory erythrocytosis in affected patients. Heterozygosity of this variant with or without β-thalassemia has been previously described in three Italian families, thereby suggesting a single origin of the mutation. The authors report the first case of homozygosity in a North American female infant, born to heterozygous parents as a product of consanguineous marriage. |
| Databáze: | OpenAIRE |
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