Hereditary persistence of hemoglobin F is protective against red cell sickling. A case report and brief review
| Autor: | Alida Podrumar, Vladimir Gotlieb, Alexander Rozin, Anton Mararenko, Alexandra Sokolova |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Thalassemia Erythrocytes Abnormal Anemia Sickle Cell lcsh:RC254-282 Hereditary spherocytosis 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases Fetal hemoglobin medicine Humans Aplastic anemia Fetal Hemoglobin Fetus Red Cell lcsh:RC633-647.5 business.industry lcsh:Diseases of the blood and blood-forming organs Hematology General Medicine lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens medicine.disease 030104 developmental biology Oncology Genetic Loci Immunology Hemoglobin F Hemoglobin business Polymorphism Restriction Fragment Length 030215 immunology |
| Zdroj: | Hematology/Oncology and Stem Cell Therapy, Vol 12, Iss 4, Pp 215-219 (2019) |
| ISSN: | 1658-3876 |
| DOI: | 10.1016/j.hemonc.2017.09.003 |
| Popis: | Fetal hemoglobin (HbF) is a physiologic protein tetramer that is crucial for a developing fetus to survive in utero. Maternal hemoglobin has a relatively lower affinity for oxygen, and thus allows for an efficient transfer of oxygen from maternal to fetal blood. In addition to fulfilling a critical physiologic role, HbF is also known to alleviate symptoms of sickle-cell disease (SCD). The concentration of HbF depends on several factors. HbF is elevated in inherited conditions, such as hereditary persistence of HbF, hereditary spherocytosis, and thalassemia. The level of HbF is also increased in acquired states, such as pregnancy, aplastic anemia, thyrotoxicosis, hepatoma, myeloproliferative disorders, or hypoplastic myelodysplastic syndrome. It has been identified that some genetic loci have significant influence on HbF levels. The XmnI polymorphism, the HMIP locus, and the BCL11A gene are responsible for 45% of variations in HbF levels. Although SCD has been well described in the subpopulations of Africa, it is less common in the subpopulations of India. We describe a case of SCD, in which a patient with high HbF level presented at a very late age (27 years old). We presume the patient’s inherently elevated HbF levels were able to compensate for the hypoxic episodes associated with SCD. The onset of symptoms was delayed as a result of elevated HbF levels. Keywords: Acute chest syndrome, HbF, Hereditary hemoglobinopathies, Late presentation, Sickle cell |
| Databáze: | OpenAIRE |
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