Hematological Profile in Children With Numerical Chromosomal Disorders

Evaluation of Hematological Profile in Children With Numerical Chromosomal Disorders

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07807540

Enrollment

158

Registered

2026-09-08

Start date

2026-09-02

Completion date

2028-07-20

Last updated

2026-09-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Chromosome Disorders, Down Syndrome, Klinefelter Syndrome, Trisomy 18, Turner Syndrome

Keywords

Numerical chromosomal disorders, Hematological profile, Down syndrome, Complete blood count, Children

Brief summary

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.

Detailed description

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

28 Days to 18 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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.

Contacts

CONTACTDalia a Sayed, Resident

Dalia.18331747@med.aun.edu.eg+20 11 54130609

STUDY_CHAIRMohamed M Hamdy, prof

Pediatrics Department, Assiut University Hospitals

Outcome results