Hematological Profile in Children With Numerical Chromosomal Disorders

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.

Primary outcomes

• Frequency of hematological abnormalities [Baseline]: 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.

Secondary outcomes

• Pattern of hematological abnormalities [Baseline]: Distribution and pattern of specific hematological abnormalities (anemia, macrocytosis, thrombocytopenia, neutropenia, etc.) among the studied children.
• Hematological profile according to syndrome type [Baseline]: Comparison of hematological parameters (hemoglobin, MCV, platelet count, white blood cell count) among different numerical chromosomal disorders (Down syndrome, Turner syndrome, and others).
• Correlation of hematological abnormalities with clinical features [Baseline]: Correlation coefficient between the presence of hematological abnormalities and clinical features (recurrent infections, bleeding manifestations, hepatosplenomegaly), using Spearman or Pearson correlation as appropriate.

Sex: All, ages: 28 Days to 18 Years

Inclusion Criteria:

* \- Age from 28 days to 18 years
* Confirmed numerical chromosomal disorder (Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, or Patau syndrome) by karyotype
* Written informed consent from parents or legal guardians

Exclusion Criteria:

* \- Age below 28 days
* Patients receiving chemotherapy
* Refusal of parents or legal guardians to participate

• Costa FF, Foly LS, Coutinho MP. DataGenno: building a new tool to bridge molecular and clinical genetics. Appl Clin Genet. 2011 Mar 18;4:45-54. doi: 10.2147/TACG.S17597. Print 2011. PMID 23776366
• Bull MJ. Down Syndrome. N Engl J Med. 2020 Jun 11;382(24):2344-2352. doi: 10.1056/NEJMra1706537. No abstract available. PMID 32521135
• Nothen MM, Propping P. Identifying genetic factors in common diseases: more helpful in relation to etiology than prediction. Dtsch Arztebl Int. 2013 May;110(19):329-30. doi: 10.3238/arztebl.2013.0329. No abstract available. PMID 23762203
• Gershwin LJ, Netherwood KA, Norris MS, Behrens NE, Shao MX. Equine IgE responses to non-viral vaccine components. Vaccine. 2012 Dec 14;30(52):7615-20. doi: 10.1016/j.vaccine.2012.10.029. Epub 2012 Oct 23. PMID 23088888

• Mohamed M Hamdy, prof, Study chair, Pediatrics Department, Assiut University Hospitals