Hematological Profile in Children With Numerical Chromosomal Disorders

September 2, 2026 updated by: Dalia Abdo Abdelhafez Sayed, Assiut University

Evaluation of Hematological Profile in Children With Numerical Chromosomal Disorders

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.

Study Overview

Status

Not yet recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

158

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Children aged 28 days to 18 years diagnosed with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Single cohort: Children with numerical chromosomal disorders
Children aged 28 days to 18 years with confirmed numerical chromosomal disorders who will undergo complete blood count and peripheral blood smear examination to evaluate their hematological profile.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Frequency of hematological abnormalities
Time Frame: 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.
Baseline

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Pattern of hematological abnormalities
Time Frame: Baseline
Distribution and pattern of specific hematological abnormalities (anemia, macrocytosis, thrombocytopenia, neutropenia, etc.) among the studied children.
Baseline
Hematological profile according to syndrome type
Time Frame: Baseline
Comparison of hematological parameters (hemoglobin, MCV, platelet count, white blood cell count) among different numerical chromosomal disorders (Down syndrome, Turner syndrome, and others).
Baseline
Association with clinical features
Time Frame: Baseline
Association between hematological abnormalities and clinical phenotypes (recurrent infections, bleeding manifestations, hepatosplenomegaly).
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assiut University

Investigators

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

September 2, 2026

Primary Completion (Estimated)

September 26, 2027

Study Completion (Estimated)

July 20, 2028

Study Registration Dates

First Submitted

September 2, 2026

First Submitted That Met QC Criteria

September 2, 2026

First Posted (Actual)

September 8, 2026

Study Record Updates

Last Update Posted (Actual)

September 8, 2026

Last Update Submitted That Met QC Criteria

September 2, 2026

Last Verified

September 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Hematology-Chromosomal-Disorde

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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