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Hematological and biochemical studies in children with Down syndrome
1División de Genética, Hospital de Especialidades del Centro Médico de Occidente, IMSS, Guadalajara, Jalisco, Mexico.
Insights
Children with Down syndrome often exhibit macrocytosis and elevated red blood cell enzymes like adenosine deaminase (ADA) and glucose-6-phosphate dehydrogenase (G6PD), suggesting a potential link between these factors.
Area of Science:
- Hematology
- Biochemistry
- Genetics
Background:
- Down syndrome is a genetic disorder associated with various health complications.
- Hematological and biochemical profiles in children with Down syndrome require further investigation.
Purpose of the Study:
- To investigate hematological and biochemical parameters in children with Down syndrome.
- To compare these parameters with a control group of normal children.
- To explore potential associations between specific findings.
Main Methods:
- Hematological and biochemical analyses were performed on 83 children with Down syndrome and 69 controls.
- Key variables included hemoglobin variants (HbF, HbA2), vitamin B12, folates, iron studies, hematic cytology, and red blood cell enzymes (ADA, G6PD, SOD).
Main Results:
- Children with Down syndrome showed macrocytosis and normal leukocyte counts.
- Elevated levels of fetal hemoglobin (HbF), vitamin B12, folates, adenosine deaminase (ADA), and glucose-6-phosphate dehydrogenase (G6PD) were observed.
- Normal levels of HbA2 and superoxide dismutase (SOD) were found.
Conclusions:
- Children with Down syndrome present with characteristic hematological and biochemical differences, including macrocytosis and increased ADA and G6PD activity.
- An indirect association between macrocytosis and elevated ADA and G6PD levels is suggested.
- Further research is warranted to elucidate the underlying mechanisms.
Abstract:
Eighty-three children with Down syndrome were submitted to hematological and biochemical studies; 69 normal children were included as controls. The variables analyzed were: HbF, HbA2, serum B12 vitamin (B12), folates, total iron and iron binding capacity, hematic cytology, and the red blood cell enzymes adenosine deaminase (ADA), glucose-6-phosphate dehydrogenase (G6PD) and superoxide dismutase (SOD). The most relevant results were: macrocytosis, normal leucocytes, HbF, B12 and folates, as well as high levels of the enzymes ADA and G6PD. An indirect association between macrocytosis, ADA and G6PD is discussed.