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[Natural history of sickle cell anemia]
C Berchel1, J P Diara, H Loret
1Service de pédiatrie, centre hospitalier régional et universitaire, Pointe-à-Pitre, Guadeloupe.
Insights
Sickle-cell anaemia presents with anaemia, vaso-occlusive events, and infections, varying by age. Its progression involves distinct stages from infancy to adulthood, each with unique risks and complications.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Context:
- Sickle-cell anaemia is a genetic blood disorder.
- Clinical manifestations vary significantly with patient age.
Purpose:
- To describe the clinical signs and natural history of sickle-cell anaemia across different age groups.
- To highlight the evolving risks and complications from infancy through adulthood.
Summary:
- The disease progresses through four main periods: neonatal (asymptomatic, requires protection), early childhood (high mortality/morbidity from infections, anaemia, crises), older children/adolescents (painful crises, early degenerative pathology), and adulthood (less frequent acute episodes but chronic, disabling complications).
- Key complications include vaso-occlusive phenomena, severe infections, anaemia, and degenerative tissue damage affecting ocular, orthopaedic, renal, and pulmonary systems.
- Pregnancy poses a high risk. The diverse clinical picture contrasts with the underlying haemoglobin S polymerization, influenced by haemoglobin type, socio-economic factors, and other unknown variables.
Impact:
- Provides a comprehensive age-stratified overview of sickle-cell anaemia.
- Emphasizes the need for age-specific management and preventative strategies.
- Underscores the complexity of sickle-cell anaemia, influenced by genetic and environmental factors.
Abstract:
Sickle-cell anaemia is characterized by three categories of clinical signs: anaemia, vaso-occlusive phenomena and infective complications, which are described here according to age. The natural history of the disease can be divided into four periods: the neonatal period which is asymptomatic but important to organize an effective protection; the first 5 years of life are characterized by a high risk of mortality, a high level of morbidity due to severe infections, episodes of acute anaemia and painful crises typical of that age-group; the life of older children and adolescents is dotted with painful crises; it is in this period that degenerative tissue pathology begins; in adulthood, the acute episodes are less frequent, but multiple complications develop. Some of them (cerebral vascular accidents or lung diseases) may be fatal, while others are the source of chronic and disabling lesions, notably ocular, orthopaedic and renal lesions, which affect the functional prognosis. Pregnancy remains a high risk. There is, therefore, a striking contrast between the basic physiopathological mechanism (polymerization of haemoglobin S) and the various clinical manifestations which depend on the type of haemoglobin, on the social and sanitary conditions in each country and on other reasons which remain to be elucidated.