This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.
Numerical chromosomal disorders such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome are associated with various hematological abnormalities. These may include anemia, macrocytosis, thrombocytopenia, leukocyte abnormalities, and increased risk of hematological malignancies, particularly in Down syndrome. This cross-sectional study will include children aged 28 days to 18 years with confirmed numerical chromosomal disorders. Complete blood count and peripheral blood smear examination will be performed to evaluate the hematological profile and determine the frequency and pattern of abnormalities.
Study Type
OBSERVATIONAL
Enrollment
158
Frequency of hematological abnormalities
Proportion of children with numerical chromosomal disorders who have one or more hematological abnormalities (anemia, macrocytosis, thrombocytopenia, leukopenia, leukocytosis, or abnormal peripheral blood smear findings), expressed as percentage.
Time frame: Baseline
Pattern of hematological abnormalities
Distribution and pattern of specific hematological abnormalities (anemia, macrocytosis, thrombocytopenia, neutropenia, etc.) among the studied children.
Time frame: Baseline
Hematological profile according to syndrome type
Comparison of hematological parameters (hemoglobin, MCV, platelet count, white blood cell count) among different numerical chromosomal disorders (Down syndrome, Turner syndrome, and others).
Time frame: Baseline
Correlation of hematological abnormalities with clinical features
Correlation coefficient between the presence of hematological abnormalities and clinical features (recurrent infections, bleeding manifestations, hepatosplenomegaly), using Spearman or Pearson correlation as appropriate.
Time frame: Baseline
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