Prolonged Survival in Homozygous High A2-Type Beta Thalassaemia
| Autor: | Mehdi Farhangi, Arthur Bank, Martin D. Sass |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Reticulocytes Adolescent Thalassemia In Vitro Techniques Hematocrit Hemoglobins hemic and lymphatic diseases Internal medicine Haemoglobin F medicine Humans In patient Older sibling Globin Aged medicine.diagnostic_test business.industry Homozygote Hematology Middle Aged Prognosis medicine.disease Globins Beta-thalassaemia Thalassaemia trait Endocrinology Child Preschool Erythrocyte Count business |
| Zdroj: | Scandinavian Journal of Haematology. 7:465-470 |
| ISSN: | 0036-553X |
| DOI: | 10.1111/j.1600-0609.1970.tb01933.x |
| Popis: | Longevity in patients with well-documented homozygous β thalassaemia is quite uncommon. This report describes a family with two brothers with β thalassaemia of intermediate severity who lived until ages 34 and 51. The older sibling had a haemoglobin A2 of 6.3% and a haemoglobin F og 25.1%. The presence of thalassaemia trait in all four of his children in the face of haematologically normal spouse, provided genetic evidence for homozygosity in this patient. Biochemical studies confirmed the diagnosis of homozygous β thalassaemia by showing markedly decreased β chain synthesis in his reticulocytes. This family study indicates that the condition of homozygosity is one of the possibilities in thalassaemic patients with prolonged survival. |
| Databáze: | OpenAIRE |
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