Synthesis of Alpha, Delta-Beta and Gamma Chains by Reticulocytes from Two Brothers Homozygous for Haemoglobin Lepore
| Autor: | Valerto Ventruto, Benedetta Luppis |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
Male
Genetics Reticulocytes Adolescent Hemoglobins Abnormal Homozygote Alpha (ethology) Globin chain macromolecular substances Hematology General Medicine Peptide Chain Termination Translational Biology Molecular biology Haemoglobin Lepore Child Preschool Genotype Humans Amino Acid Sequence Beta (finance) |
| Zdroj: | Acta Haematologica. 61:216-221 |
| ISSN: | 1421-9662 0001-5792 |
| DOI: | 10.1159/000207659 |
| Popis: | Globin chain synthesis has been investigated for the first time in 2 patients homozygous for haemoglobin Lepore, although the 2 brothers have the same haemoglobin genotype the severity of the diseases is very different. The purpose of this study was to try and find out the reason for the different severity in the clinical manifestations. In the 2 patients a different excess of alpha-chain synthesis was observed, the higher excess being present in the subject carrying the more severe anaemia. This result strongly suggests that in homozygous haemoglobin Lepore disease, as in beta-thalassaemia, the degree of globin chain imbalance is responsible for the clinical manifestations. |
| Databáze: | OpenAIRE |
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