Unusual combination of genetic defects in a Sicilian family: β-thalassaemia, haemoglobin Lepore Boston-Washington and heterocellular hereditary persistence of fetal haemoglobin
| Autor: | R. Testa, Antonio Russo, Salvatore Musumeci, Gino Schilirò, Maria Antonietta Romeo, G.V. Russo, F Di Gregorio |
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| Rok vydání: | 1983 |
| Předmět: |
Adult
Male Genetics Persistence (psychology) Hemoglobins Abnormal Hematology Middle Aged Biology Blood Protein Electrophoresis β thalassaemia Pedigree Hemoglobinopathies Haemoglobin Lepore Blood protein electrophoresis Child Preschool Fetal haemoglobin Humans Thalassemia Female Child Fetal Hemoglobin Aged |
| Zdroj: | British Journal of Haematology. 55:473-477 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/j.1365-2141.1983.tb02162.x |
| Popis: | This paper reports a Sicilian family in which beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterotocellular hereditary persistence of fetal haemoglobin (HPFH) were present in various combinations. The most interesting combination was that of Hb Lepore and heterocellular HPFH, which has not been previously reported. This subject was clinically normal, with the haematological picture of Hb Lepore trait and an unusually high level of HbF due to an increased number of circulating F cells. |
| Databáze: | OpenAIRE |
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