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Haematological change in sickle cell-haemoglobin C disease and in sickle cell-beta thalassaemia: a cohort study from
Insights
This study details early childhood haematological changes in sickle cell-haemoglobin C (SC) disease and sickle cell-beta thalassaemias. SC disease showed intermediate values, while sickle cell-beta(0) thalassaemia presented distinct differences in key blood parameters.
Area of Science:
- Paediatric Hematology
- Genetic Blood Disorders
- Sickle Cell Disease Research
Background:
- Neonatal screening identifies various haemoglobinopathies.
- Understanding early haematological profiles is crucial for managing these conditions.
- Sickle cell-haemoglobin C (SC) disease and sickle cell-beta thalassaemias require distinct management strategies based on their unique pathophysiology.
Purpose of the Study:
- To characterize and compare early childhood haematological changes in SC disease, sickle cell-beta(+) thalassaemia, and sickle cell-beta(0) thalassaemia.
- To identify unique haematological markers for each condition in infants and young children.
- To establish baseline data for monitoring disease progression and treatment efficacy.
Main Methods:
- Longitudinal observation of haematological indices in diagnosed children.
- Comparative analysis of blood parameters including haemoglobin levels, red cell count, MCV, MCHC, and reticulocyte count.
- Statistical comparison between SC disease, sickle cell-beta(+) thalassaemia, sickle cell-beta(0) thalassaemia, SS disease, and normal (AA) controls.
Main Results:
- Children with SC disease exhibited haematological values generally intermediate between SS disease and normal controls, with notable exceptions like microcytosis and elevated mean cell haemoglobin concentration (MCHC).
- The combination of low mean corpuscular volume (MCV) and high MCHC may be characteristic of SC disease.
- Sickle cell-beta(0) thalassaemia showed significantly lower haemoglobin, MCHC, red cell count, and MCV, with higher reticulocytes compared to sickle cell-beta(+) thalassaemia before one year of age.
- HbF and HbA2 levels did not significantly differ between S beta(0) thalassaemia and S beta(+) thalassaemia, resembling SS disease and exceeding SS disease levels respectively by one year.
Conclusions:
- Early haematological profiles in SC disease are distinct, characterized by intermediate values and a unique combination of low MCV and high MCHC.
- Sickle cell-beta(0) thalassaemia presents with more severe haematological derangements in early childhood compared to sickle cell-beta(+) thalassaemia.
- These findings highlight the importance of genotype-specific monitoring and management of sickle cell disorders in early life.
Abstract:
The haematological changes in early years following neonatal diagnosis have been observed in representative groups of children with sickle cell-haemoglobin C (SC) disease, sickle cell-beta(+) thalassaemia, and in sickle cell-beta(0) thalassaemia. Most haematological indices in SC disease were intermediate between previously published values in SS disease and in AA controls, generally being closer to values in normal children. Exceptions were microcytosis which may be genetically determined and a striking elevation of mean cell haemoglobin concentration from age 2 months to 4 years. The combination of a raised MCHC and a lowered MCV is unusual and may be characteristic of SC disease. Features in sickle cell-beta thalassaemia generally differed according to the type of beta thalassaemia gene. Sickle cell-beta(0) thalassaemia had lower levels of haemoglobin, MCHC, red cell count, MCV, and higher reticulocytes, most differences being significant before 1 year. No differences between S beta(0) thalassaemia and S beta(+) thalassaemia were apparent in HbF levels (which resembled those in SS disease) or in HbA2 levels (which exceeded those in SS disease by 1 year of age).